4^th International conference on Predictive, Preventive and Personalized Medicine & Molecular Diagnostics September 22-23, 2016 Phoenix, USA

Biography:

Howard Moskowitz, Harvard PhD in experimental psychology (1969) is founding partner and chief scientific officer of Mind Genomics Advisors. He has published extensively in many fields, using the science of Mind Genomics, which he invented more than 30 years ago. After a distinguished dual career in science and business, he changed course, creating an institute to help younger professionals as well as students and business, benefit from the application of Mind Genomics to practical problems in society, including commerce, health, education, and socal issues. Along with hundreds of scientific papers, he has written/edited 27 published books, with an additional 15 books finished but not yet published.

Abstract:

"Mind Genomics, a new science with old roots, reveals what aspects of the topic are important to people, how people differ in the way they respond to these aspects (mind-sets), messages most effective to drive choice and compliance for each mind-set, and finally how to identify the mind-set of a person on a topic, either throughpersonal interaction (the personal viewpoint identifier), or through scored databases (the digital viewpoint identifier). Mind Genomics is a data-driven approach to understand the world of the everyday. A metaphor is ‘cartography of the mind.’ Knowledge is developed in a pointillist style, from the intimate, profound, comprehensive understanding of specific topics, be these situations (e.g., choosing hospital food), regimens (e.g., adhering to the proper schedule for taking one’s drugs), choosing a service, products (e.g., a selecting a hospital in which to give birth), dealing with the ‘customer/patient’ with understanding (e.g., interacting with a teen age patient), etc.. We present the Mind Genomics approach, first in theory, and then in practical applications, showing how messaging can drive potential increases in adherence after discharge from the hospital, as well as better messaging to encourage colonoscopy, and finally messaging to convince the public that one’s hospital is a better place in which to ‘give birth. "

Biography:

David Duggan is a leading translational scientist and market/technical analyst with 26 years of scientific expertise and nearly a decade of experience advising equity management firms on many of the leading genomics and personalized medicine companies. Research in his laboratory focuses on the inherited basis of human disease and germline DNA risk assessment with an emphasis on cancer predisposition. High-throughput, state-of-the-art technologies including genotyping and next generation sequencing were often paired with population- and familial-based study designs. His laboratory has generated genetic/genomic data on >300,000 samples; published >150 peer-reviewed manuscripts; 6 invited reviews; 3 book chapters; and, co-edited a book on Oncogenomics: Molecular Approaches to Cancer. Dr. Duggan is a current and past member of the steering committees for several National Institutes of Health (USA) funded consortiums. He has been an invited participant in several national and international grant review panels; and, has been an invited participant in the scientific advisory committees for two leading genomic technology companies. Dr. Duggan received his Ph.D. in human genetics from the University of Pittsburgh and obtained his post-doctoral training at the National Human Genome Research Institute, National Institutes of Health (USA).

Abstract:

Over the past decade, remarkable advances in the field of genomics among others have led to an improved understanding of human biology and disease. The field of oncology has been the greatest benefactor of these advances to date. I will highlight four such advances in this talk including improvements in individual risk assessment, early detection of disease in asymptomatic individuals, identification of molecularly targeted drug treatments, and monitoring treatment response in cancer patients. First, data from germline DNA including the sequencing of known, high-penetrant cancer predisposition genes and SNP-based genetic risk score analyses in individuals with either a known family history (family history positive) or no known family history (family history negative) can be combined clinically with traditional family history screening to identify twice as many individuals at risk of developing disease compared with using family history alone. Second, circulating biomarkers including proteomic, metabolomic, and or genomic are being studied in asymptomatic individuals to discover early detection biomarkers with the goal of being able to detect disease early where survival rates are highest. Third, oncology patients who have otherwise progressed on standard of care treatments are being successfully treated using molecularly targeted therapies that are specific, personal, to the molecular defects found in their tumor. Significant improvements in quality of life, progression free survival, and overall survival for a subset of patients have been previously reported although additional studies including clinical trials are needed and underway. Finally, early clinical studies examining genomic-based, biomarkers found in the circulating blood stream and urine of oncology patients have demonstrated how genomics can be used non-invasively for detecting response to treatment and or disease recurrence. Circulating tumor DNA can be detected in patients whose cancers have relapsed months prior to the cancer being detectable by medical imaging. These and other precision medicine advances are being used today to help direct appropriate screening, prevention, and treatment strategies to the right patient at the right time. While the greatest numbers of examples come from oncology, other areas of medicine - pharmacogenomics, cardiology, neurology, childhood diseases, and infectious disease - have and will continue to benefit from the genomic advances of the last decade as well.

Biography:

Hu is currently Senior Vice President and Head of Consulting in the US for the Pharmaceutical and Diagnostics industries at GlobalData Inc., a publicly listed global healthcare business intelligence and management consulting firm with a headquarter in London, UK.  Earlier, aside from being the founding President of BioStrat Advisory LLC, for years he was the Managing Partner and Head of Bionest USA, both life science industry strategy consulting firms in the US.  An early participant of the Human Genome Project and later involved in the International HapMap Project, Dr. Hu is now a recognized thought leader in the field of personalized / precision medicine (PM) business strategy, advising global pharmaceutical and diagnostics companies on how best to develop and commercialize personalized medicine drug and / or molecular diagnostics, and build internal business processes & capabilities for PM products. He currently serves on the Editorial Board of the peer-reviewed journal Personalized Medicine, in addition to several PM related industry consortia/committees.  For example, he was the only representative from the management consulting industry invited to the US FDA Personalized Medicine Initiative, and co-organized / co-chaired a two-day conference / workshop on Personalized Medicine Strategic Decision Making onsite at the US FDA campus.  He was also a Member of the BioNJ PM & Molecular Diagnostics Committee. He has been a frequently invited speaker on PM at conferences and to the leadership teams of many pharmaceutical companies, along with some notable business publications on this subject, including two (co-) first-authored papers in Nature Reviews, and such other journals as Supplement to Science and Personalized Medicine. As part of his extracurricular activities, he holds an Adjunct Professor position at the Chinese National Human Genome Center at Shanghai, Chinese Academy of Sciences, and Senior Advisor & Visiting Professor positions at the Beijing Genomics Institute.    For years, he served as the Greater New York / New Jersey Regional Leader for BayHelix, a semi-exclusive club of global life science industry business executives of Chinese heritage.  Dr. Hu’s earlier work experience includes serving at such other consulting firms as IMS Consulting and AT Kearney, BMS – a major pharma, Illumina – a prominent genetic analysis tool/diagnostics company, and CuraGen – a first-generation genomics biopharma.  Dr. Hu obtained his PhD in Genomics from New York University, and MBA from the Wharton School of Business, University of Pennsylvania, with double majors in Strategic and Entrepreneurial Management.

Abstract:

Today we are nearly 20 years after the launch of the first poster-child personalized medicine, Herceptin, and more than 13 years after the completion of the Human Genome Project.  Driven by both the advancement of biotechnologies and the attraction of the great potential value of personalized / precision medicine, in recent years we have seen solid growth in the number of personalized medicine products. 

About ten years ago, we predicted that, drastic reduction of costs of emerging genomic technologies was ready to shift the bottleneck of the personalized medicine field from science-centric to business-centric, i.e. from whether or not it would be scientifically and clinically feasible to discover and develop a biomarker / companion diagnostics, to whether or not a pharma / biotech company would be willing to pursue a biomarker for its product and embrace the idea of patient stratification. 

That prediction was proven true, as, in the past decade, more and more pharma / biotech companies considered biomarker an integral component of their product development and commercialization strategy and delivered a steadily growing personalized medicine pipeline and marketed products. 

In parallel, regulatory pathways for personalized medicine have been evolving and maturing.  Reimbursement challenges for personalized medicine have also been addressed in key markets in the world. 

Given those observations, are we now in a “golden age” of personalized medicine? Or, there are other, new major challenges ahead of us?  Do many drug development teams still often struggle with a biomarker approach for their drugs?  In the high profile example of PD-1/PD L1 immuno-oncology products, sharing a similar mechanism of action didn’t result in immune-oncology products with similar biomarkers, or at all.  What would those real life examples tell us about the future challenges of personalized / precision medicine?

In this presentation, we will review the history and landscape of personalized/precision medicine, and share our views on how the challenges in the field are evolving for the life science industries, and potential solutions. 

Biography:

Vincent S. Gallicchio has 45 years experience in academic medicine and research covering experimental hematology, immunology, and developmental therapeutics for human diseases such as AIDS and cancer. He has earned national and international recognition for his efforts. In a first time study reporting on academic scholarly productivity in the Journal of Clinical Laboratory Science, Dr. Gallicchio was rated the number one academic biomedical laboratory science researcher in the United States. His passion for research, a high value placed on excellence, a strong reputation as an esteemed collaborator, and a tenacious desire to see a better therapies for human diseases brought to market speak to his overall character.

Over the years his direction leading a research team produced more than 170 peer-reviewed publications, 32 book chapters, several text books, countless number of invited presentations nationally and internationally, and fourteen United States and one international patents. Dr. Gallicchio has secured in excess of $23 million dollars in research funding from various public and private funding agencies including several foundations and many pharmaceutical companies. As a board certified medical laboratory scientist by the American Society of Clinical Pathology (ASCP), Gallicchio serves as a Clinical Laboratory Director. He holds lab directorship certification from the South Carolina Department of Health & Environmental Control (DHEC) . He also serves as a consultant to Minerals Resources International, Inc., Logan, UT related to the health benefits of trace elements.

Gallicchio earned his Ph.D. in Experimental Hematology at New York University Medical Center and completed fellowships in hematology (Sloan Kettering Institute for Cancer Research and University of Connecticut Health Center). He was awarded a diploma in internal medicine from “Vasile Goldis” University of Arad Medical School (Romania). He has served as President of Alpha Eta Honor Society, the International Society for Lithium Research, the International Federation of Biomedical Laboratory Science, and currently serves as Vice President of the Educational and Research Centers in Trace Elements operated under the auspice of UNESCO. He is a Fellow of the Association of Clinical Scientists, the Association of Schools of Allied Health Professions, and the Royal Society of the Arts (RSA). In 2003, at the 200^th anniversary RSA celebration, because of his long-standing effort to educate English biomedical laboratory science students, Dr. Gallicchio was recognized by Her Majesty, Queen Elizabeth II.

Abstract:

Personalized medicine (PM) is a model that proposes the customization of healthcare - with medical decisions, practices, and/or products being tailored to the individual patient. Use of genomic information plays a major role in certain aspects of PM. The term was first coined in the context of genetics (though it has since broadened to encompass all sorts of personalization measures). To distinguish from the context in which medicine has always been inherently "personal" to each patient, PM commonly denotes the use of technology or discovery enabling a level of personalization not previously feasible or practical. Advances in medical and human genetics have enabled a more detailed understanding of the impact of genetics in diagnosis, treatment and prognosis of human disease. Large collaborative research projects such as the human genome project have laid the groundwork for the understanding the role of genes in normal human development including physiology revealing single nucleotide polymorphisms (SNPs) account for the genetic variability between individuals. This information has made possible the use of genome association studies (GWAS) to examine genetic variation and thus understand the risk for many common diseases. A number of topics have emerged that have targeted personalized medicine they are: pharmacogenomics, proteomics and metabolomics. For example, the management of cancer identified the presence of genes associated with the induction of a number of human cancers. This list has grown in significance amplified recently with the actions made in personal health by the actress Angelina Jolie. PM also has identified a number of notable concerns and opportunities. One such concern is the individual cost of PM for those individuals who do not have personalized health care insurance. Legislation in the form of the Genomics and Personalized Medicine Act has been introduced in the Congress of the United States to address issues involving scientific barriers, adverse market pressures and regulatory obstacles. Importantly, the passing of the Affordable Care Act and its affirmation by the Supreme Court of the United States will allow the utility of PM to continue in the U.S. Finally, in order to educate future physicians the advent of PM is influencing medical education with the development of sub- specialties in PM by a growing number of medical schools in the United States. The transition to PM is proceeding even as experts continue to debate whether does this new information actually improve health care? This dialogue will continue here at Personalized Medicine 2015 Valencia.

Biography:

Bahram G Kermani is the Founder and CEO of Crystal Genetics, Inc. He was the Vice President of Bioinformatics, Software Engineering and IT at Guardant Health and served as the Senior Director of Computational Biology at Complete Genomics. He is an expert in the field of computational biology and pattern recognition. He has held various scientific positions at Illumina, where he designed and implemented algorithms for various proteomics and genomics applications, including Illumina's world renowned SNP genotyping system. He was a Lead Digital Designer at Lucent Technologies (AT&T Bell Laboratories), where he designed and analyzed various digital signal processors. He has completed his Postdoctoral fellowship at Duke University Medical Center in 1996, PhD and MS in Electrical Engineering and Biomedical Engineering in 1996 and 1992, respectively from North Carolina State University, Raleigh, NC. He has received his BS (1989) in Electronics Engineering from Amirkabir University of Technology (Tehran Polytechnique), Tehran, Iran. He has several publications in the areas of electrical engineering, biomedical engineering and genomics and holds 42 patents, issued in the United States, Canada, France, United Kingdom, Germany and Japan.

Abstract:

Genetic tests are gateways to understanding the predisposition state for different genetic diseases. Although not everybody is affected by genetic anomalies, in theory, a person's susceptibility status to a disease remains unknown unless a genetic test is performed. Therefore, every person in the world can benefit from these tests and at multiple times during his/her lifetime. The susceptibility conditions are often hereditary but may also be due to de novo mutations in the patient. For many people with pathogenic mutations, effective preventative actions are available. These actions include medications, surgical interventions and lifestyle changes. For a test to be useful, it must be accurate, comprehensive, affordable and flexible. The most comprehensive and flexible genetic test is the one based on whole genome sequencing (WGS), where almost all positions of the genome can be interrogated. A fundamental issue with WGS data is the limited coverage (e.g., 30x) which could cause challenges in many areas of the genome where the biases in the process force the coverage to be significantly lower than the average. When the read coverage drops, one has no choice but using all the relevant information in the given reads to make a call, otherwise a false negative call may be made. Subsequently, for that call not to be erroneous (FP), in addition to the sample’s read information, some domain knowledge based on historic data or auxiliary information may be utilized. Therefore, machine learning and expert systems can be highly desirable models in order to achieve this objective. Variant interpretation is a common challenge in all genetic tests. WGS framework provides the most flexible model for dealing with an ever-changing landscape of the interpretation engines and databases. When WGS data is available, one can, in theory, update the test results based on the most recent data in interpretation engines and databases.

Biography:

Abstract:

Biography:

Hiroyuki A Watanabe has studied Pathology and received Doctor of Medical Science degree from Showa University, School of Medicine in Tokyo. He has received Clinical training of Internal Medicine and Gastroenterology at Showa University School of Medicine in Tokyo and Tokai University, School of Medicine at Isehara in Japan. He has worked as a Visiting Fellow at the Internal Medicine and Pathology at Free University, School of Medicine in Berlin (West) in Germany. He is a Member of Japanese Society of Gastroenterology and Japan Gastroenterological Endoscopy Society and his subspecialty is gastroenterology and gastroenterological endoscopy. He has published about 50 papers in journals in gastroenterological field.

Abstract:

Appendectomy is widely accepted as the first-line treatment for acute appendicitis in the absence of abscess formation and peritonitis. However, controversy remains over the therapeutic options after conservative treatment. Here, we describe a case of neuroendocrine tumor G1 (NET G1; carcinoid) that was found by performing interval appendectomy after successful conservative treatment. A man in his early 30s presented to our clinic with right lower abdominal pain. Computed tomography (CT) and ultrasonography (US) revealed a swollen appendix and an appendicolith. Abscess formation was not observed but ongoing appendiceal rupture was not ruled out. Three months after successful conservative therapy, the lumen of the apical portion was kept dilated and laparoscopic interval appendectomy was performed. No tumorous findings were observed macroscopically. However, by histology, many tiny nests were found infiltrating the submucosa, muscular layer and subserosa at the root of the appendix. Appendiceal neuroendocrine tumor G1 (NET G1; carcinoid) was diagnosed immunohistologically. Neither CT nor US visualized the tumor because of its non-tumor-forming but infiltrative growth. In conclusion, after successful conservative treatment, interval appendectomy should be considered to uncover possible appendiceal NET G1 (carcinoid), particularly when dilatation of the distal lumen being kept observed.

Biography:

Ramon Cacabelos is a Professor and Chairman of Genomic Medicine at Camilo José Cela University, Madrid and President of the EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, Spain. He has received his MD from Oviedo University, PhD from Santiago de Compostela University and DMSci in Psychiatry from Osaka University Medical School, Japan. After a decade at the Department of Psychiatry in Osaka, he returned to Spain and focused his research activity on the genomics and pharmacogenomics of Alzheimer’s disease, neurodegenerative disorders and neuropsychiatric pathology. He has published over 600 papers, 400 chapters and 24 books. One of his major contributions is the first World Guide for Drug Use and Pharmacogenomics (2012). He is the Editor-in-Chief and Member of the Editorial Board of several international journals, Member of over 30 scientific societies and President of the Spanish Society of Genomic Medicine and the World Association of Genomic Medicine.

Abstract:

E-PodoFavalin-15999 (Atremorine®) is a novel biopharmaceutical compound, obtained by means of non-denaturing biotechnological processes from structural components of Vicia faba L., for the prevention and treatment of Parkinson’s disease (PD). Preclinical studies (in vitro) revealed that Atremorine is a powerful neuroprotectant in cell cultures of human neuroblastoma SH-SY5Y cells, hippocampal slices in conditions of oxygen and glucose deprivation and striatal slices under conditions of neurotoxicity induced by 6-OHDA. In vivo studies showed that Atremorine protects against 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced dopaminergic neurodegeneration, inhibits MPTP-induced microglia activation and neurotoxicity in substantia nigra and improves motor function in mice with MPTP-induced neurodegeneration. Clinical studies have been performed in 3 groups of patients: NP: Naive drug-free patients with PD (never treated with anti-parkinsonian drugs), AP: Parkinsonian patients chronically treated with L-Dopa and MX: A heterogenous sample of patients with Parkinsonian disorders. 30-60 minutes after a single dose (5 g) of Atremorine, plasma levels of dopamine increased from 16.71±14.38 pg/mL to 2286±4218 pg/mL (p<0.001) in NP, from 4149±7062 pg/mL to 13539±12408 pg/mL (p<0.001) in AP and from 860±3445 pg/mL to 4583±8084 pg/mL (p<0.001) in MX patients with a parallel clinical improvement lasting for 3-6 hours. Atremorine administration also increased the plasma levels of noradrenaline in NP (p<0.008) and MX (p<0.04) with no changes in AP. Atremorine induced significant decreases in prolactin levels in NP and MX and in growth hormone levels in NP and MX. Changes in the levels of monoamines and hormones were genotype-specific. Pharmacogenetic studies indicate that the therapeutic response induced by atremorine in PD is associated with the pharmacogenetic profile of each patient. This is the first study on the biopharmaceutical properties and pharmacogenetics of Atremorine in PD after patent application.

Biography:

Lars von Olleschik-Elbheim has completed his PhD in Medical Microbiology from Westfälische Wilhelms-Universität, Germany. In the past 17 years he has been working for both pharmaceutical and diagnostics companies in various positions. Dealing with the diagnostics and treatment of environmental, diet and behavior related diseases, his interest focused on the effects of personalized nutrition within the frameset of personalized medicine. Within this context he is currently focusing on the effects of clinoptilolite zeolite, Vitamin D and adaptogens, when it comes to stress and age related diseases and anti-ageing in general. The proper use of companion diagnostics for consultation and monitoring is one of his additional topics of interest in regard to personalized nutrition and anti ageing.

Abstract:

Clinoptilolite is an outstanding microporous material with a super large surface of volcanic rock origin with special selective binding capacities towards heavy metals, small positive charged molecules and even viruses. It is very interesting that engages mainly the “bad boys” and thus supports their inactivation and depletion from the human body. Used since thousands of years by men and even being part of instinctive activities in some animals it was more or less forgotten until the Chernobyl catastrophy led to intense research activities in order to protect the health of the people as good as possible. Clinoptilolite showed to be the best material to prevent the environment from further intoxication and it is even capable of depleting substances like radioactive Cesium out of the human body. Nowadays there is a rising amount of publications with case reports and clinical studies showing that the “typical diseases of the elderly”, like e.g., diabetes, cancer, osteoporosis, some forms of brain damage can be slowed down or stopped in their progression, sometimes effectively treated by the use of clinoptilolite. By blocking toxic compounds from interfering with internal regulatory processes and the capability to deplete them from the human body it shows anti-aging effects e.g., on skin, liver, heart, brain, bones, wound healing, hair and overall endurance. Combined with the right diagnostics clinoptilolite is more and more proving as a very good part of the medical toolbox.

Biography:

Gargi Basu is the Senior Director of Clinical Curation at Ashion, where she is responsible for characterizing genetic alterations present in tumor DNA and creating a knowledgebase of actionable biomarkers by gathering evidence from scientific literature.Basu has authored 29 articles in peer-reviewed journals and has presented at over 50 national and international conferences. She is listed as an inventor on nine patents related to tumor profiling. Previously, Basu worked at Caris Life Sciences in various leadership positions and prior to that she worked as a scientist at Translational Genomics Research Institute (TGen) and the Mayo Clinic.

Abstract:

Breast cancer (BC) is the second largest disease affecting women and is a leading causing of death among women. It is a molecularly diverse disease defined by ER, PR, HER2 status. Characterizing the molecular alterations in BC may lead to an improved understanding of its biology and provide new therapeutic options.Comprehensive genomic profiling was performed on 82 breast cancer samples with 48 metastatic and 34 primary samples. Targeted sequencing was performed on 562 cancer associated genes in paired tumor and blood DNA samples.Within the breast cohort studied, there were 29 (35%) triple negative (TNBC), 8 (10%) were HER2 positive and 44(54%) were hormone receptor positive (HR+). Within the TNBC subset, 13 cases had loss of function alteration in PTEN, STK11, TSC2 and NF1, or gain of function event in RPTOR, AKT1 or PIK3CA mutation in exon 9 or 20 suggesting potential response with PI3K/AKT/mTOR inhibitors. Further, mutations in TP53 was present in 23 cases which may indicate potential response to Wee1 inhibitors. Dysregulation of cell cycle pathway through activation of cyclin D1 or inactivation of CDKN2A was found in 2 cases. DNA repair deficiency was found in 3 cases harboring deleterious mutations in CHEK1, BRCA1 and PALB2. Other actionable alterations included FGFR1 gain in 2 cases and JAK2 gain in 1 case. Among the HER2 positive subtype, 5 cases harbored mutations in PTEN or mutations in exon 9 or 20 of PIK3CA suggesting potential response to PI3K/AKT/mTOR inhibitors. In addition, 5 cases had TP53 mutations mainly within the DNA-binding domain which is known to truncate the p53. Other actionable events included amplifications in FGFR1, RARA and CCNE1. In HR+ subset, 25/44(57%) had activation of PI3K/AKT/mTOR pathway with mutation in exon 9 or 20 of PIK3CA, or alterations in PTEN, FBXW7, STK11, NF1, NF2, ARID1A, PIK3R1, TSC1/2, AKT1, AKT2 and MTOR. Interestingly, 3 samples harbored activating HER2 mutations which could be targeted by HER2 targeted therapies. In addition, we observed constitutively active ESR1 mutations in HR+ breast cancer in 6/44(14%) cases. Alterations in cell cycle genes was present in 10(23%) cases which may benefit from CDK4/6 inhibitors. DNA repair deficiency was noted in 8 cases with mutations in ATM, BRCA1, BRCA2, FANCA, RAD51, PALB2 genes. Other actionable alterations included 13 cases with TP53 mutations and 5 cases with alterations in FGFR genes causing activation of FGFR pathway.This study provides a broader understanding of genomic landscape and molecular targets in BC that are not routinely searched for in the current management of BC. When considering clinical trials or treatment planning for advanced BC patients, exploratory genomic analysis should be considered.

Biography:

Oscar Teijido Hermida is the Head of the Medical Epigenetics Department at EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, Corunna, Spain. He has received his PhD from the University of Barcelona, Spain in 2007. During his scientific career in University of A Corunna, Spain, University of Barcelona, Spain, New York University, USA and The National Institutes of Health, USA, he achieved more than 20 scientific publications in the molecular genetics, biochemistry and physiology fields and presented his work in more than 25 international conferences.

Abstract:

According to the WHO, cerebrovascular and neurodegenerative disorders affect one billion people around the world. A number of these disorders are characterized by the onset of dementia. Alzheimer’s disease (AD) is the major cause of dementia in Western countries, affecting 45-60% of the population, followed by vascular dementia (VD) and mixed dementia (MD) with prevalence of 30-40% and 10-20%, respectively. Population studies evaluate the genetic risk, i.e., the probability of an individual carrying a specific disease-associated polymorphism. Identification of risk polymorphisms is essential for an accurate diagnosis or prognosis of a number of pathologies. The aim of this study was to characterize the influence of risk polymorphisms associated with dementia in a large population of Spanish individuals affected by a variety of brain and vascular disorders as well as metabolic syndrome. We performed a cross-sectional study in 4415 individuals from a widespread regional distribution in Spain (48.15% males and 51.85% females) with mental, neurodegenerative, cerebrovascular and metabolic disorders. We evaluated polymorphisms in genes associated with the accumulation of Aβ and the cleavage of the Aβ precursor protein such as A2M and PSEN1, respectively and also with APOE, which is one of the most prevalent risk genes in AD, especially in those individuals harboring the APOE-ε4 allele, whereas the APOE-ε2 variant is protective for dementia. Allele and genotype frequencies of those polymorphisms in our population were compared with representative Spanish and European populations. Risk polymorphisms in PSEN1 and APOE (specially the APOE-ε4 allele) are representative of our population as compared to reference data of Spanish and European individuals. These data indicate that risk polymorphisms in PSEN1 and APOE-ε4 may be the trademark of AD in the Spanish population.

Biography:

Hu is currently Senior Vice President and Head of Consulting in the US for the Pharmaceutical and Diagnostics industries at GlobalData Inc., a publicly listed global healthcare business intelligence and management consulting firm with a headquarter in London, UK. Earlier, aside from being the founding President of BioStrat Advisory LLC, for years he was the Managing Partner and Head of Bionest USA, both life science industry strategy consulting firms in the US. An early participant of the Human Genome Project and later involved in the International HapMap Project, Dr. Hu is now a recognized thought leader in the field of personalized / precision medicine (PM) business strategy, advising global pharmaceutical and diagnostics companies on how best to develop and commercialize personalized medicine drug and / or molecular diagnostics, and build internal business processes & capabilities for PM products. He currently serves on the Editorial Board of the peer-reviewed journal Personalized Medicine, in addition to several PM related industry consortia/committees. For example, he was the only representative from the management consulting industry invited to the US FDA Personalized Medicine Initiative, and co-organized / co-chaired a two-day conference / workshop on Personalized Medicine Strategic Decision Making onsite at the US FDA campus. He was also a Member of the BioNJ PM & Molecular Diagnostics Committee. He has been a frequently invited speaker on PM at conferences and to the leadership teams of many pharmaceutical companies, along with some notable business publications on this subject, including two (co) first authored papers in Nature Reviews, and such other journals as Supplement to Science and Personalized Medicine. As part of his extracurricular activities, he holds an Adjunct Professor position at the Chinese National Human Genome Center at Shanghai, Chinese Academy of Sciences, and Senior Advisor & Visiting Professor positions at the Beijing Genomics Institute.

Abstract:

Today we are nearly 20 years after the launch of the first poster-child personalized medicine, Herceptin, and more than 13 years after the completion of the Human Genome Project. Driven by both the advancement of biotechnologies and the attraction of the great potential value of personalized / precision medicine, in recent years we have seen solid growth in the number of personalized medicine products. About ten years ago, we predicted that, drastic reduction of costs of emerging genomic technologies was ready to shift the bottleneck of the personalized medicine field from science-centric to business-centric, i.e. from whether or not it would be scientifically and clinically feasible to discover and develop a biomarker / companion diagnostics, to whether or not a pharma / biotech company would be willing to pursue a biomarker for its product and embrace the idea of patient stratification. That prediction was proven true, as, in the past decade, more and more pharma / biotech companies considered biomarker an integral component of their product development and commercialization strategy and delivered a steadily growing personalized medicine pipeline and marketed products.
In parallel, regulatory pathways for personalized medicine have been evolving and maturing. Reimbursement challenges for personalized medicine have also been addressed in key markets in the world. Given those observations, are we now in a “golden age” of personalized medicine? Or, there are other, new major challenges ahead of us? Do many drug development teams still often struggle with a biomarker approach for their drugs? In the high profile example of PD-1/PD L1 immuno oncology products, sharing a similar mechanism of action didn’t result in immuneoncology products with similar biomarkers, or at all. What would those real life examples tell us about the future challenges of personalized / precision medicine? In this presentation, we will review the history and landscape of personalized/precision medicine, and share our views on how the challenges in the field are evolving for the life science industries, and potential solutions.

Biography:

Howard Moskowitz, Harvard PhD in experimental psychology (1969) is founding partner and chief scientific officer of Mind Genomics Advisors. He has published extensively in many fields, using the science of Mind Genomics, which he invented more than 30 years ago. After a distinguished dual career in science and business, he changed course, creating an institute to help younger professionals as well as students and business, benefit from the application of Mind Genomics to practical problems in society, including commerce, health, education, and socal issues. Along with hundreds of scientific papers, he has written/edited 27 published books, with an additional 15 books finished but not yet published.

Abstract:

"Mind Genomics, a new science with old roots, reveals what aspects of the topic are important to people, how people differ in the way they respond to these aspects (mind-sets), messages most effective to drive choice and compliance for each mind-set, and finally how to identify the mind-set of a person on a topic, either through personal interaction (the personal viewpoint identifier), or through scored databases (the digital viewpoint identifier). Mind Genomics is a data-driven approach to understand the world of the everyday. A metaphor is ‘cartography of the mind.’ Knowledge is developed in a pointillist style, from the intimate, profound, comprehensive understanding of specific topics, be these situations (e.g., choosing hospital food), regimens (e.g., adhering to the proper schedule for taking one’s drugs), choosing a service, products (e.g., a selecting a hospital in which to give birth), dealing with the ‘customer/patient’ with understanding (e.g., interacting with a teen age patient), etc.. We present the Mind Genomics approach, first in theory, and then in practical applications, showing how messaging can drive potential increases in adherence after discharge from the hospital, as well as better messaging to encourage colonoscopy, and finally messaging to convince the public that one’s hospital is a better place in which to ‘give birth. "

Biography:

Vincent S. Gallicchio has 42 years experience in academic medicine and research covering experimental hematology, immunology, and developmental therapeutics for human diseases such as AIDS and cancer. He has earned national and international respect and recognition for his efforts. In a first time study reporting on academic scholarly productivity in the Journal of Clinical Laboratory Science, Gallicchio was rated the number one academic biomedical laboratory science researcher in the United States. In addition to his passion for research, Gallicchio is equally passionate to teach, mentor and advise students. He has mentored many doctoral and post-doctoral students, dozens of master’s level students and hundreds of undergraduate students both foreign and domestic, many of whom are now esteemed researchers themselves at institutions such as: Oxford University, Eastern Kentucky University, University of Cincinnati, University of Florida, University of Kentucky, University of Limpopo (South Africa), Jewish and Mercy Hospitals in Cincinnati and major pharmaceutical companies such as Procter & Gamble and Johnson & Johnson. As a board certified medical laboratory scientist by the American Society of Clinical Pathology (ASCP), Gallicchio also serves as the Clinical Laboratory Director of the Lab Tree Clinical Biochemical Research Laboratory in Greenville, SC. He also serves as a consultant to Minerals Resources International, Inc on matters related to the health benefits of trace elements; and is a consulting Vice-President of Technology Development for Conversion Laboratories, LLC, and West Columbia, SC. He has served on the faculty and academic staff at the Yale University School of Medicine, the University of Kentucky Medical Center, the University of Central Lancashire (England) and the University of Wolver hampton (England). He has served as President of Alpha Eta Honor Society, the International Society for Lithium Research, International Federation of Biomedical Laboratory Science and currently serves as Vice President of the Educational and Research Centers in Trace Elements program operated under the auspice of UNESCO

Abstract:

"Personalized medicine (PM) is a model that proposes the customization of healthcare -­â€ with medical decisions, practices, and/or products being tailored to the individual patient. Use of genomic information plays a major role in certain aspects of PM. The term was first coined in the context of genetics (though it has since broadened to encompass all sorts of personalization measures). To distinguish from the context in which medicine has always been inherently ""personal"" to each patient, PM commonly denotes the use of technology or discovery enabling a level of personalization not previously feasible or practical. Advances in medical and human genetics have enabled a more detailed understanding of the impact of genetics in diagnosis, treatment and prognosis of human disease. Large collaborative research projects such as the human genome project have laid the groundwork for the understanding the role of genes in normal human development including physiology revealing single nucleotide polymorphisms (SNPs) account for the genetic variability between individuals. This information has made possible the use of genome association studies (GWAS) to examine genetic variation and thus understand the risk for many common diseases. A number of topics have emerged that have targeted personalized medicine they are: pharmacogenomics, proteomics and metabolomics. For example, the management of cancer identified the presence of genes associated with the induction of a number of human cancers. This list has grown in significance amplified recently with the actions made in personal health by the actress Angelina Jolie. PM also has identified a number of notable concerns and opportunities. One such concern is the individual cost of PM for those individuals who do not have personalized health care insurance. Legislation in the form of the Genomics and Personalized Medicine Act has been introduced in the Congress of the United States to address issues involving scientific barriers, adverse market pressures and regulatory obstacles. Importantly, the passing of the Affordable Care Act and its affirmation by the Supreme Court of the United States will allow the utility of PM to continue in the U.S. Finally, in order to educate future physicians the advent of PM is influencing medical education with the development of sub-­â€specialties in PM by a growing number of medical schools in the United States. The transition to PM is proceeding even as experts continue to debate whether does this new information actually improve health care? This dialogue will continue here at Personalized Medicine 2015 Valencia."

Biography:

Bahram G Kermani is the Founder and CEO of Crystal Genetics, Inc. He was the Vice President of Bioinformatics, Software Engineering and IT at Guardant Health and served as the Senior Director of Computational Biology at Complete Genomics. He is an expert in the field of computational biology and pattern recognition. He has held various scientific positions at Illumina, where he designed and implemented algorithms for various proteomics and genomics applications, including Illumina's world renowned SNP genotyping system. He was a Lead Digital Designer at Lucent Technologies (AT&T Bell Laboratories), where he designed and analyzed various digital signal processors. He has completed his Postdoctoral fellowship at Duke University Medical Center in 1996, PhD and MS in Electrical Engineering and Biomedical Engineering in 1996 and 1992, respectively from North Carolina State University, Raleigh, NC. He has received his BS (1989) in Electronics Engineering from Amirkabir University of Technology (Tehran Polytechnique), Tehran, Iran. He has several publications in the areas of electrical engineering, biomedical engineering and genomics and holds 42 patents, issued in the United States, Canada, France, United Kingdom, Germany and Japan.

Abstract:

Genetic tests are gateways to understanding the predisposition state for different genetic diseases. Although not everybody is affected by genetic anomalies, in theory, a person's susceptibility status to a disease remains unknown unless a genetic test is performed. Therefore, every person in the world can benefit from these tests and at multiple times during his/her lifetime. The susceptibility conditions are often hereditary but may also be due to de novo mutations in the patient. For many people with pathogenic mutations, effective preventative actions are available. These actions include medications, surgical interventions and lifestyle changes. For a test to be useful, it must be accurate, comprehensive, affordable and flexible. The most comprehensive and flexible genetic test is the one based on whole genome sequencing (WGS), where almost all positions of the genome can be interrogated. A fundamental issue with WGS data is the limited coverage (e.g., 30x) which could cause challenges in many areas of the genome where the biases in the process force the coverage to be significantly lower than the average. When the read coverage drops, one has no choice but using all the relevant information in the given reads to make a call, otherwise a false negative call may be made. Subsequently, for that call not to be erroneous (FP), in addition to the sample’s read information, some domain knowledge based on historic data or auxiliary information may be utilized. Therefore, machine learning and expert systems can be highly desirable models in order to achieve this objective. Variant interpretation is a common challenge in all genetic tests. WGS framework provides the most flexible model for dealing with an ever-changing landscape of the interpretation engines and databases. When WGS data is available, one can, in theory, update the test results based on the most recent data in interpretation engines and databases.

Biography:

Abstract:

Biography:

Oscar Teijido Hermida is the head of the Medical Epigenetics Department at EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, Corunna, Spain. He received his PhD in the University of Barcelona, Spain in 2007 with his Thesis titled: Biochemical characterization and location of the protein MLC1, involved in the Megalencephalic Leukoencephalopathy with Subcortical Cysts. During his scientific career in University of A Corunna (Spain), University of Barcelona (Spain), New York University (USA), and The National Institutes of Health (USA), Dr. Teijido achieved more than 20 scientific publications in the molecular genetics, biochemistry, and physiology fields and presented his work in more than 25 International Conferences and invited presentations.

Abstract:

 and stroke are the third leading cause of death in the US and in Europe with around 200 cases per 100,000 inhabitants per year and almost six million victims every year, according to the WHO. Furthermore, Metabolic Syndrome (MS) affects 20-34% of the population, primarily in developed countries. MS is characterized by low high-density lipoprotein (HDL) levels, high blood serum triglycerides, high blood pressure, abdominal obesity, and elevated fasting plasma glucose, which confers a higher risk for thrombosis and diabetes than average population. Population studies evaluate the genetic risk, i.e. the probability of an individual carrying a specific disease-associated polymorphism. Identification of risk polymorphisms is essential for an accurate diagnosis or prognosis of a number of pathologies. The aim of this study was to characterize the influence of risk polymorphisms associated with lipid metabolism, hypertension, and thrombosis in a large population of Spanish individuals affected by a variety of brain and vascular disorders as well as metabolic syndrome. We performed a cross-sectional study in 4415 individuals from a widespread regional distribution in Spain (48.15% males and 51.85% females), with cerebrovascular,   abolic, and mental disorders. We evaluated polymorphisms in a number of genes involved in obesity, cerebrovascular, and cardiovascular risk in our population and compared it with representative Spanish and European populations. We identified polymorphisms in ACE, AGT(235), IL6(573) as representative risk factors for vascular and lipid metabolism-related disorders in our population in comparison to reference data of Spanish and European individuals. Predominance of APOE-ε4 and reduced APOE-ε2 allele distribution compared to other representative Spanish and South European populations might be associated with Alzheimer’s disease or dementia-related disorders rather than vascular or lipid metabolism imbalance in our population.

Biography:

Anthony Johnson is the President and CEO of Empire Genomics, a leading molecular diagnostic firm specializing in the delivery of precision medicine in the oncology arena. Since the firm’s founding, he has raised multiple rounds of funds, signed multimillion dollar licensing and distribution deals and has developed many companion diagnostic assays that are in clinical development as therapeutic selection markers. He is also a Founding Partner of Buffalo Biosciences, a life science strategic management services firm, where he consults on areas of healthcare. Previously, he has worked for Invitrogen Corporation, where he created and led the firm’s stem cell and regenerative medicine franchise. He has earned his MBA from the Alliance Manchester Business School in Manchester, England and a Bachelor's degree in Biology from Fisk University in Nashville, Tennessee. He is a Fellow of the second class of the Health Innovators Fellowship and a Member of the Aspen Global Leadership Network.

Abstract:

This talk will explore the complexities and timelines of licensing a novel genomic technology from Emory University and developing the assay into a companion Dx with a major pharmaceutical partner (Takeda Millennium). We will discuss the process, the key stakeholders as well as key issues that need to be considered and managed in order to ultimately end up with a marketable test in the end. The talk will center on the Empire Genomic Companion Dx assay for proteasome inhibitors in the disease multiple myeloma and the active companion trial NCT02765854. In order to proceed from the bench to the bedside, diagnostic technologies must demonstrate robust scientific data, health economic benefits and the ability to ultimately help clinicians make disease management decisions based on testing results.

Biography:

Dr. Ramón Cacabelos is Professor and Chairman of Genomic Medicine at Camilo José Cela University, Madrid, and President of the EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, Corunna, Spain. He received his M.D. from Oviedo University, Ph.D. from Santiago de Compostela University, and D.M.Sci. (Psychiatry) from Osaka University Medical School, Japan. After a decade at the Department of Psychiatry in Osaka, he returned to Spain and focused his research activity on the genomics and pharmacogenomics of Alzheimer’s disease, neurodegenerative disorders, and neuropsychiatric pathology. He has published over 600 papers, 400 chapters, and 24 books. One of his major contributions is the first World Guide for Drug Use and Pharmacogenomics (2012)(www.pharmacogenomicsguide.com). He is Editor-in-Chief and member of the Editorial Board of several international journals, member of over 30 scientific societies, and President of the Spanish Society of Genomic Medicine and the World Association of Genomic Medicine.

Abstract:

"Alzheimer’s disease (AD) is a heterogeneous disorder with, at least, a tetravalent phenotype (neuropathological, neurobehavioral, age-related and gender-related components). Consequently, therapeutic intervention in dementia is polymodal, in order to modify the expression of all these complex phenotypes. AD patients present concomitant disorders including hypertension (20-30%), obesity (>20%), diabetes (24%), dyslipidemia (>40%), and metabolic disorders (>15%). Cardiovascular disorders (>40%), atherosclerosis (>60%), and different modalities of cerebrovascular damage (>60%) are frequent among patients with AD. Most of these concomitant anomalies may contribute to accelerate the dementia process. Pharmacogenetic studies in hypercholesterolemic patients with dementia treated with Atorvastatin (ATO) + LipoEsar (LIP) indicate that the therapeutic response to the combination of a conventional statin and a novel anti-atherosclerotic bioproduct is highly influenced by pathogenic and metabolic genes: (i) Cholesterol (CHO) levels are APOE-dependent. APOE-4/4 carriers exhibit the highest CHO levels. APOE-2/3, APOE-3/4 and APOE-4/4 carriers experience a gradual age-dependent decrease in CHO levels. (ii) The therapeutic response of CHO to ATO+LIP is APOE-dependent. APOE-3/3 and APOE-3/4 carriers are the best responders and APOE-2/4 and APOE-4/4 carriers are the worst responders. (iii) CYP2D6-EMs and IMs show a significant decrease in CHO levels in response to ATO+LIP, whereas PMs and UMs exhibit a poorer CHO lowering effect. (iv) CYP2C9-EMs and IMs effectively respond to ATO+LIP, and CYP2C9-PMs do not respond. (v) CYP2C19-EMs and IMs significantly respond to ATO+LIP, and PMs do not show any effect. (vi) CYP3A4/5-EMs show a significant decrease in CHO levels after one month of treatment with ATO+LIP. Over 80% of CYP3A4/5-EMs respond to ATO+LIP, with an almost complete normalization of CHO levels. The effect in IMs is spectacular, with over 90% of the patients experiencing a drastic reduction in CHO levels, and 60% of RMs do not respond at all. Most of these effects can be explained on a pharmacogenetic basis. "

Biography:

Hiroyuki A Watanabe has studied Pathology and received Doctor of Medical Science degree from Showa University, School of Medicine in Tokyo. He has received Clinical training of Internal Medicine and Gastroenterology at Showa University School of Medicine in Tokyo and Tokai University, School of Medicine at Isehara in Japan. He has worked as a Visiting Fellow at the Internal Medicine and Pathology at Free University, School of Medicine in Berlin (West) in Germany. He is a Member of Japanese Society of Gastroenterology and Japan Gastroenterological Endoscopy Society and his subspecialty is gastroenterology and gastroenterological endoscopy. He has published about 50 papers in journals in gastroenterological field.

Abstract:

Appendectomy is widely accepted as the first-line treatment for acute appendicitis in the absence of abscess formation and peritonitis. However, controversy remains over the therapeutic options after conservative treatment. Here, we describe a case of neuroendocrine tumor G1 (NET G1; carcinoid) that was found by performing interval appendectomy after successful conservative treatment. A man in his early 30s presented to our clinic with right lower abdominal pain. Computed tomography (CT) and ultrasonography (US) revealed a swollen appendix and an appendicolith. Abscess formation was not observed but ongoing appendiceal rupture was not ruled out. Three months after successful conservative therapy, the lumen of the apical portion was kept dilated and laparoscopic interval appendectomy was performed. No tumorous findings were observed macroscopically. However, by histology, many tiny nests were found infiltrating the submucosa, muscular layer and subserosa at the root of the appendix. Appendiceal neuroendocrine tumor G1 (NET G1; carcinoid) was diagnosed immunohistologically. Neither CT nor US visualized the tumor because of its non-tumor-forming but infiltrative growth. In conclusion, after successful conservative treatment, interval appendectomy should be considered to uncover possible appendiceal NET G1 (carcinoid), particularly when dilatation of the distal lumen being kept observed.

Biography:

Gargi Basu is the Senior Director of Clinical Curation at Ashion, where she is responsible for characterizing genetic alterations present in tumor DNA and creating a knowledgebase of actionable biomarkers by gathering evidence from scientific literature. Dr. Basu has authored 29 articles in peer-reviewed journals and has presented at over 50 national and international conferences. She is listed as an inventor on nine patents related to tumor profiling. Previously, Dr. Basu worked at Caris Life Sciences in various leadership positions and prior to that she worked as a scientist at Translational Genomics Research Institute (TGen) and the Mayo Clinic

Abstract:

Breast cancer (BC) is the second largest disease affecting women and is a leading causing of death among women. It is a molecularly diverse disease defined by ER, PR, HER2 status. Characterizing the molecular alterations in BC may lead to an improved understanding of its biology and provide new therapeutic options. Comprehensive genomic profiling was performed on 82 breast cancer samples with 48 metastatic and 34 primary samples. Targeted sequencing was performed on 562 cancer associated genes in paired tumor and blood DNA samples.Within the breast cohort studied, there were 29 (35%) triple negative (TNBC), 8 (10%) were HER2 positive and 44(54%) were hormone receptor positive (HR+). Within the TNBC subset, 13 cases had loss of function alteration in PTEN, STK11, TSC2 and NF1, or gain of function event in RPTOR, AKT1 or PIK3CA mutation in exon 9 or 20 suggesting potential response with PI3K/AKT/mTOR inhibitors. Further, mutations in TP53 was present in 23 cases which may indicate potential response to Wee1 inhibitors. Dysregulation of cell cycle pathway through activation of cyclin D1 or inactivation of CDKN2A was found in 2 cases. DNA repair deficiency was found in 3 cases harboring deleterious mutations in CHEK1, BRCA1 and PALB2. Other actionable alterations included FGFR1 gain in 2 cases and JAK2 gain in 1 case. Among the HER2 positive subtype, 5 cases harbored mutations in PTEN or mutations in exon 9 or 20 of PIK3CA suggesting potential response to PI3K/AKT/mTOR inhibitors. In addition, 5 cases had TP53 mutations mainly within the DNA-binding domain which is known to truncate the p53. Other actionable events included amplifications in FGFR1, RARA and CCNE1. In HR+ subset, 25/44(57%) had activation of PI3K/AKT/mTOR pathway with mutation in exon 9 or 20 of PIK3CA, or alterations in PTEN, FBXW7, STK11, NF1, NF2, ARID1A, PIK3R1, TSC1/2, AKT1, AKT2 and MTOR. Interestingly, 3 samples harbored activating HER2 mutations which could be targeted by HER2 targeted therapies. In addition, we observed constitutively active ESR1 mutations in HR+ breast cancer in 6/44(14%) cases. Alterations in cell cycle genes was present in 10(23%) cases which may benefit from CDK4/6 inhibitors. DNA repair deficiency was noted in 8 cases with mutations in ATM, BRCA1, BRCA2, FANCA, RAD51, PALB2 genes. Other actionable alterations included 13 cases with TP53 mutations and 5 cases with alterations in FGFR genes causing activation of FGFR pathway.This study provides a broader understanding of genomic landscape and molecular targets in BC that are not routinely searched for in the current management of BC. When considering clinical trials or treatment planning for advanced BC patients, exploratory genomic analysis should be considered.

Biography:

Juan C Carril is Director of the Genomics and Pharmacogenomics Department at EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, Corunna, Spain. He received his PhD from Santiago de Compostela University in 2000 defending the thesis “Genetic structure and profile of the populations of the Iberian Peninsula by means of markers (STRs and SNPs) of the human Y-chromosome”. He has published more than 40 scientific publications in the fields of Population Genetics, Forensic Genetics, Genetic Epidemiology and Pharmacogenetics, and over 40 papers at national and international conferences.

Abstract:

The right medication in precise doses, given at the right time, for the right patient. This is an ideal that any physician strive to reach when prescribing drugs to patients. This is particularly important for drugs that have a high risk of adverse reactions and narrow therapeutic margin. International pharmaco-economic studies conducted to evaluate the cost-effectiveness of drugs for prevalent diseases (cardiovascular disease, cancer, CNS disorders, hypertension, diabetes, hypercholesterolemia, dementia) evidence the fact that 10-20% of direct costs in these pathologies are from pharmaceutical nature. Assuming this reality, and given that the lack of pharmacogenetic customization in conventional treatments increases the costs by 30%, presumably it concludes that the implementation of pharmacogenetic protocols in the treatment of chronic diseases, especially in disabled patients with long evolution, allow us to reduce direct and indirect pharmaceutical expenses by 25-40% depending on the primary diagnosis, concomitant diseases, clinical course of the(s) disease(s), polypharmacy, secondary intervention to mitigate adverse effects, and pharmacogenetic profile of the patient. This pharmacogenetic panel analyzes a total of 12 genes coding for seven phase I enzymes (CYP2D6, CYP2C9, CYP2C19, CYP3A4, CYP3A5, CYP1A2, G6PD), three phase II enzymes (NAT2, UGT1A1, VKORC1) and two transporters (ABCB1, SLCO1B1). The criteria for the inclusion of polymorphisms focuses on its genotype-phenotype correlation and its impact, valued as population frequencies in the Spanish population, discarding the analysis of polymorphisms whose presence in our population is not relevant. The EuroEspes Pharmacogenetic Card works as a custom formulary for each patient, so that, with the pharmacogenetic profile of the individual, the physician can manage the most suitable drugs for any condition for which he faces and the most effective dose for the patient in question.

Biography:

Sergey Suchkov is a Researcher-Immunologist, a Clinician graduated from Astrakhan State Medical University, Russia in 1980. He has been trained at the Institute for Medical Enzymology, The USSR Academy of Medical Sciences, National Center for Immunology (Russia), NIH, Bethesda, USA and British Society for Immunology to cover 4 British university facilities. Since 2005, he has been working as Faculty Professor of I.M. Sechenov First Moscow State Medical University and of A.I. Evdokimov Moscow State Medical & Dental University. He is the First Vice-President and Dean of the School of PPPM Politics and Management of the University of World Politics and Law. He was a Scientific Secretary-in-Chief of the Editorial Board of the International Journal “Biomedical Science” (Russian Academy of Sciences and Royal Society of Chemistry, UK) and The International Publishing Bureau at the Presidium of the Russian Academy of Sciences. He was a Director of the Russian-American Program in Immunology of the Eye Diseases. He is a Member of EPMA, NY Academy of Sciences and an Editorial Board Member for Open Journal of Immunology and others

Abstract:

Sergey Suchkov is a Researcher-Immunologist, a Clinician graduated from Astrakhan State Medical University, Russia in 1980. He has been trained at the Institute for Medical Enzymology, The USSR Academy of Medical Sciences, National Center for Immunology (Russia), NIH, Bethesda, USA and British Society for Immunology to cover 4 British university facilities. Since 2005, he has been working as Faculty Professor of I.M. Sechenov First Moscow State Medical University and of A.I. Evdokimov Moscow State Medical & Dental University. He is the First Vice-President and Dean of the School of PPPM Politics and Management of the University of World Politics and Law. He was a Scientific Secretary-in-Chief of the Editorial Board of the International Journal “Biomedical Science” (Russian Academy of Sciences and Royal Society of Chemistry, UK) and The International Publishing Bureau at the Presidium of the Russian Academy of Sciences. He was a Director of the Russian-American Program in Immunology of the Eye Diseases. He is a Member of EPMA, NY Academy of Sciences and an Editorial Board Member for Open Journal of Immunology and others

Biography:

Kimberly Burnham has completed her PhD in Integrative Medicine and had extensive training in Craniosacral Therapy, Reiki, Acupressure, Integrative Manual Therapy, Health Coaching and Matrix Energetics which enables her to serve as a catalyst, gently shifting her clients' abilities to feel better physically, think more clearly and be more creative. She works at New Moon Family Wellness in Spokane and consults worldwide. She also writes for inner Child Magazine, 5Best, and Spokane FAVs. She is the award winning author of several books including, Touched by Parkinson's, A Healing Journey Through Poetry and Balancing the Sleep-Wake Cycle: Sleep Better, Learn Faster, Contribute More, and Enjoy Life

Abstract:

In 1955, E. Sedlacek wrote an article entitled, “Remedial massage in multiple sclerosis,” for the journal, Hippokrates. Since then manual therapists and complementary and alternative medicine practitioners have been assessing clients and putting together rehabilitation programs for people with multiple sclerosis that bring together a number of elements and approaches tailored to the individual presenting in their office. Often the symptom picture varies significantly from one individual to the next. There is no list of technique that must be done with people with multiple sclerosis. The treatment plan depends on what is contributing to the individual's symptoms. There are a wide range of assessment techniques that can be used to find the solutions to the symptoms. Just knowing the diagnosis is not enough, the practitioner must consider the best approach to take with their client and to do so they must understand through assessment and palpation what is contributing to this particular symptom picture. A variety of studies show the benefits of Complementary and Alternative Medicine (CAM) with people with Multiple Sclerosis and other neurodegenerative disorders. These approaches include, integrative manual therapy, physical therapy, massage therapy, reflexology, reiki, acupuncture, music therapy, yoga, exercises and activities designed to increase quality of life. In a 1994 study by Fawcett, J., J. S. Sidney, et al., “Use of alternative health therapies”, 16 people with multiple sclerosis (MS) said, physical therapy, counseling, nutrition and massage were the most frequently used alternative therapies. Other therapies included acupuncture, occupational therapy, aquatic therapy, therapeutic touch, yoga, passive exercise and removal of mercury alloy tooth fillings. Almost two thirds of the respondents reported seeking an alternative health practitioner because traditional physicians offered no cure. Just under a third of respondents stated the quality of their lives was improved by alternative therapies

Biography:

Steven A Feyrer-Melk has received his PhD from Arizona State University in Exercise Science and Wellness and MEd from Bowling Green State University in Human Performance. He has effectively advanced a distinctive and practical approach for implementing Lifestyle Medicine for nearly 30 years, therefore placing him in a class-by-himself. Capitalizing on his knowhow as the Chief Science Officer for a health tech and app company with world-wide reach, he uses his knowledge of leading-edge technology so practitioners can effectively and efficiently incorporate Lifestyle Medicine concepts. His methods are data driven to optimize patient care, patient experience and practice success

Abstract:

A personalized medicine approach empowers patients and practitioners to collaborate on a path of optimal health. The advancements of health-related technologies are powerful and critical for “whole-person” care and real-world behavior change. Moreover, in the quest to remain at the cutting-edge, practitioners must recognize and properly incorporate lifestyle medicine technologies within a systems-oriented model. Therefore, to effectively leverage technology for the enhancement of patient health, a big picture overview must first be understood. This “30,000 feet” view of key technologies offers the practitioner an understanding of where we are now, what trends we can expect, and where we are going in the future. More importantly, it is imperative that we understand how these factors impact the patient, the clinician and the practice when it comes to truly personalized medicine

Biography:

Aizman Roman Idelevich is a Doctor of Biological Sciences, Professor, Honored Member of Science of Russia, Head of the Department of Human Anatomy, Physiology and Safety and the Director of the Institute of Health and Safety. He has published more than 27 books and chapters, 80 textbooks and 300 papers on developmental physiology, health and safety in reputed journals and has been serving as an Editorial Board Member of 3 scientific journals

Abstract:

On the basis of modern IT technologies, we have developed the computer versions of programs for screening diagnostics of physical and mental health of all subjects of the educational process (pupils, students, teachers, athletes). According to the experts, there are no similar electronic passports of health in one country of the world. These programs allow to provide personal quantitative assessment of the level of physical health based on anthropometric and physiometric parameters; the level of physical fitness; the mental status and neurodynamic processes of the central nervous system; the psychophysiological and personal properties defining a probability of a professional route choice and the characteristic of the educational institution conditions influencing the health of all involved humans. On the basis of received findings the integral personal characteristics, so called the electronic passport of health, is automatically formed, all parameters which are compared with the age and sex standards for this region. These data are reserved in the database that allows to comparing the results in the dynamics of surveys, between separate groups, institutions, regions, etc. The advantages of these electronic passports of physical and mental health are the ability to make quick and inexpensive diagnosis of human status, to involve the subject itself in the process of diagnosis, to control and monitoring their personal results in the development dynamics, to find out the different health disorders at the early stages and therefore, to get expert advice and timely correction of the revealed deviations start. These programs can be used on CD as well on-line. The electronic passports of health were supported by the regional administration and were implemented in 123 schools of the Novosibirsk region and 13 higher educational institutions of the Siberian region, about 100000 students of different ages were surveyed

Biography:

Sergey Suchkov is a Researcher-Immunologist, a Clinician graduated from Astrakhan State Medical University, Russia in 1980. He has been trained at the Institute for Medical Enzymology, The USSR Academy of Medical Sciences, National Center for Immunology (Russia), NIH, Bethesda, USA and British Society for Immunology to cover 4 British university facilities. Since 2005, he has been working as Faculty Professor of I.M. Sechenov First Moscow State Medical University and of A.I. Evdokimov Moscow State Medical & Dental University. He is the First Vice-President and Dean of the School of PPPM Politics and Management of the University of World Politics and Law. He was a Scientific Secretary-in-Chief of the Editorial Board of the International Journal “Biomedical Science” (Russian Academy of Sciences and Royal Society of Chemistry, UK) and The International Publishing Bureau at the Presidium of the Russian Academy of Sciences. He was a Director of the Russian-American Program in Immunology of the Eye Diseases. He is a Member of EPMA, NY Academy of Sciences and an Editorial Board Member for Open Journal of Immunology and others

Abstract:

The medicine is undergoing a paradigm shift to strive from the diagnosis and treatment for prediction and prevention. And, for sure, any innovations in healthcare services are an important driver to move the new trend forward. A ISPM, Tokyo, Japannew systems approach to disease to pay its crucial attention on the trend would result in a new branch in the healthcare services, namely, predictive, preventive and personalized medicine (PPPM). The latter is defined as: “…the capacity to predict the development of disorder-related signs and influence decisions about lifestyle choices or to tailor medical practice to an individual…”

All chronic disorders develop gradually over a period of time to take years for a process to reach a level where it could be diagnosed definitively and treatment initiated properly and in time before changes are irreversible! And, for example, Parkinson’s costs society $27 billion per year in medical bills and lost wages; worldwide, projected cases of Parkinson’s will more than double by 2030!

To achieve the practical implementation of PPPM concept, it is necessary to create a fundamentally new strategy based upon the subclinical recognition of biopredictors of hidden abnormalities long before the disease clinically manifests itself. This strategy would give a real opportunity to secure preventive measures whose personalization could have a significant influence on demographics!

Two key objectives of PPPM are: (i) detection of subclinical abnormalities based on the biomarkers validated with a selection of suitable targets for the next step of PPPM protocol, i.e., drug-based prevention; (ii) drug-based correction of the abnormalities detected under the heading of preventive measures. PPPM is thus a medical model being tailored to the individual and dictates a construction of PPPM algorithms to diagnose, to predict, and to prevent in time!

The key benefits of PPPM include new abilities:

(i)                 to detect disease at a subclinical stage, when it is easier and less expensive to treat effectively;

(ii)               to stratify patients into groups that enable the selection of optimal preventive treatment;

(iii)             to reduce adverse drug effects by more effective early assessment of individual drug responses;

(iv)             to improve the selection of new molecular targets for drug discovery;

(v)               to shift the emphasis from illness to wellness.

PPPM-motivated patients or persons at risk become data carriers, and the physician can reasonably select of preventive protocol, proceeding from the assays made. It would be extremely useful to integrate data harvesting from different databanks for applications such as prediction and personalization of further treatment. The practitioners will be able to thus provide more tailored prevention and treatment programs for their patients resulting in improved patient outcomes, reduced adverse events, and more cost effective use of health care resources. Pharmacogenomics can help to inform a tailored dosage regimen allowing for an improved drug response, while managing the risk adverse reactions.

PPPM is not an incremental innovation…. It is a radically new stage in the way medical services are delivered and diseases or treatments understood. In addition to the promise of improved patient care and disease prevention, there is potential for PPPM to impact on the cost of health care. Let me just comment that equally important is a PPPM-related test’s clinical utility, both in terms of its health and economic implications, when compared to standard healthcare.

Implementation of PPPM requires a lot before the current model “physician-patient” could be gradually displaced by a new model “medical advisor-healthy men-at-risk”. This is the reason for developing global scientific, clinical, social, and educational projects in the area of PPPM to elicit the content of the new branch. What is a realistic timeline for the incorporation of PPPM into the practice? The idea raises many critical questions that must be answered before data from basic research can be routinely incorporated into the daily healthcare delivery. So, coordinated measures to optimize the progress should be well-focused on solving the accumulating problems in healthcare and the concomitant economic burden that societies across the globe are facing more and more.

Biography:

Dr. Ramón Cacabelos is Professor and Chairman of Genomic Medicine at Camilo José Cela University, Madrid, and President of the EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, Corunna, Spain. He received his M.D. from Oviedo University, Ph.D. from Santiago de Compostela University, and D.M.Sci. (Psychiatry) from Osaka University Medical School, Japan. After a decade at the Department of Psychiatry in Osaka, he returned to Spain and focused his research activity on the genomics and pharmacogenomics of Alzheimer’s disease, neurodegenerative disorders, and neuropsychiatric pathology. He has published over 600 papers, 400 chapters, and 24 books. One of his major contributions is the first World Guide for Drug Use and Pharmacogenomics (2012)(www.pharmacogenomicsguide.com). He is Editor-in-Chief and member of the Editorial Board of several international journals, member of over 30 scientific societies, and President of the Spanish Society of Genomic Medicine and the World Association of Genomic Medicine.

Abstract:

"Alzheimer’s disease (AD) is a heterogeneous disorder with, at least, a tetravalent phenotype (neuropathological, neurobehavioral, age-related and gender-related components). Consequently, therapeutic intervention in dementia is polymodal, in order to modify the expression of all these complex phenotypes. AD patients present concomitant disorders including hypertension (20-30%), obesity (>20%), diabetes (24%), dyslipidemia (>40%), and metabolic disorders (>15%). Cardiovascular disorders (>40%), atherosclerosis (>60%), and different modalities of cerebrovascular damage (>60%) are frequent among patients with AD. Most of these concomitant anomalies may contribute to accelerate the dementia process. Pharmacogenetic studies in hypercholesterolemic patients with dementia treated with Atorvastatin (ATO) + LipoEsar (LIP) indicate that the therapeutic response to the combination of a conventional statin and a novel anti-atherosclerotic bioproduct is highly influenced by pathogenic and metabolic genes: (i) Cholesterol (CHO) levels are APOE-dependent. APOE-4/4 carriers exhibit the highest CHO levels. APOE-2/3, APOE-3/4 and APOE-4/4 carriers experience a gradual age-dependent decrease in CHO levels. (ii) The therapeutic response of CHO to ATO+LIP is APOE-dependent. APOE-3/3 and APOE-3/4 carriers are the best responders and APOE-2/4 and APOE-4/4 carriers are the worst responders. (iii) CYP2D6-EMs and IMs show a significant decrease in CHO levels in response to ATO+LIP, whereas PMs and UMs exhibit a poorer CHO lowering effect. (iv) CYP2C9-EMs and IMs effectively respond to ATO+LIP, and CYP2C9-PMs do not respond. (v) CYP2C19-EMs and IMs significantly respond to ATO+LIP, and PMs do not show any effect. (vi) CYP3A4/5-EMs show a significant decrease in CHO levels after one month of treatment with ATO+LIP. Over 80% of CYP3A4/5-EMs respond to ATO+LIP, with an almost complete normalization of CHO levels. The effect in IMs is spectacular, with over 90% of the patients experiencing a drastic reduction in CHO levels, and 60% of RMs do not respond at all. Most of these effects can be explained on a pharmacogenetic basis. "

Biography:

Dr Fratazzi devised the concept of SCIO and founded the first SCIO –BBCR Consulting in 2009, with the objective of actively contributing to innovation in the clinical process. She acts as a consultant to drug and device companies, and investors. She is a renowned Immunologist; contributed to the registration of 4 drugs. Recipient of 2013, 2014 and 2015 Best Pharmaceutical Consultant, Member of Advisory Board and Board of Directors; Invited speakers and chairman at international conferences. Dr Fratazzi received her early training at the Johns Hopkins University and Harvard University in the USA, and at Imperial College in London.

Abstract:

"Precision medicine identifies the evolving field holding the promise to transform our health care system, which consumes almost $3 trillion a year. Clinical trials are at the heart of the drug development process. They represent a significant proportion of the total cost and effectively define the critical path to a regulatory submission. Even the most-simple study costs over $1m and in the later stages of the development phase they can cost hundreds of millions of dollars and take several years to complete. Historically, the clinical trial process had been designed to develop therapeutics for the average patient. This one-size-fits-all approach has demonstrated not effective, as demonstrated by the rising cost and low success rate of clinical trials as well as the percentage of non-responder patients in clinical trials. Precision medicine is the tailoring of medical treatments to the individual characteristics of each patient, and the ability to classify individuals into subpopulations based on their susceptibility to a particular disease or their responses to a specific treatment. The development of precision therapies is closely associated with subpopulations defined by biomarkers. The design of clinical trials for these subpopulations represents a challenge from the perspective of population size, determination of response thresholds and co-development of diagnostic assays to support novel therapies. A fundamental shift in perspective and a willingness to challenge the clinical trial process is required. The SCIO-concept solution provides innovation to the trial process in which new technologies find the ideal background to be developed and applied. "

Biography:

Ahmed has completed his pharmacy degree and his PhD more than 20 years ago from USC University. He had a postdoctoralfellowship from FDA before jioing as a clinical Pharmacology reviewer.. He is now a director of Clinical Pharmacology in Pfizer, where he Integrate advanced analysis in late phase drug development in order to “fill the gaps” not addressed directly by traditional confirmatory clinical trials. The implementation of these inferential methods helped evaluate benefit/risk in special populations (Pediatrics, Elderly, patient subgroups, new indication, etc...). These inferential methods played a major role in the process of evidence synthesis, providing a strong basis for decision making.

Abstract:

"Introduction: Catheter-related bloodstream infections (CRBSIs) remain a common challenge in critically ill patients. Predictors of mortality in this population across different treatments have not been well studied. Our objective was aimed at developing useful prognostic tools and predictive models for relative risk adjustment for mortality in patients with CRBSI. Methods: We used a recent trial data of 731 patients with CRBSIs randomized to drug (x) and vancomycin(VAN). Our mortality analysis plan involved a sequence of specific step; data mining, non-parametric methods, and finally parametric (logistic) modeling. Results: Both CART and logistic regression identified MPMS, age, baseline corticosteroid exposure, region of world of enrolling study site, and infection with a gram negative pathogen as the most important factors associated with mortality. Together, these five predictors contained more than 95% of the prognostic information in the clinical data (baseline, developed). Logistic modeling allowed us to combine and investigate the effect of different prognostic variables on mortality. The validated model accurately estimated likelihood of mortality across different patient population with unique characteristics. Conclusions: Appropriate antibiotic therapy remains a key driver of mortality in CRBSI. Efforts to improve outcomes can be facilited with using a validated predictive models and the use of prognostic tools, like nomograms, to calculate the probability of mortality for any specific patient. The early prognosis would assist clinicians to identify high risk patients and to select the appropriate therapy. "

Biography:

"Emad Y. Moawad (ORCID http://orcid.org/0000-0003-0248-2050) has graduated at the age of 22 years from Ain Shams University Faculty of Engineering. He is a bio-physical theorist has discovered the concept of doubling time-energy conversion in the biological cell. Such discovery enables to administer the patient-personalized dose and predict its therapeutic outcome as well with accuracy of 100%. He has published more than 25 papers in reputed journals and has been served as referee member of repute journals as Luekemia Research, Patholoy Research and Practise and Energy Converion and Management. "

Abstract:

Identifying effectiveness of antitumor drugs enables to predict and optimize chemotherapies to personalize cancer medicine. The processes of tumor formation and cancer therapy are based mainly on the concept of doubling time–energy conversion (DT–EC) in which the conversion of doubling time into growth energy takes place. Monitoring the mechanical behavior of tumor response of the treated groups by that of the control groups with respect to the growth/or shrinkage constants along the corresponding periods determines the accumulated energy yield by the drug doses. Assessment of the efficient regimen for optimizing therapy would be based on achieving an accumulated DT–EC in the tumor cells by the regimen doses. The higher the energy yields by the same drug dose the more effectiveness of the applied regimen and vice versa. Then, efficiency of those applied regimens on different types of tumor models would be determined to assess the specifications of the personalized treatment schedule. The correlation and regression between the energy yield by the applied drug doses in optimal schedules (dependent variable) and value of those doses (independent variable) would be investigated to determine values of both variables that in perfect correlation. Thus, a dose–energy model with perfect fit for the studied drug would be constructed to administer the optimal dose in an efficient schedule. Accordingly, the therapeutic response of cancer to the studied drug could be predicted prior to therapy by identifying each of patient's histologic grade—in vitro or in vivo—and energy yield by the proposed (personalized) dose using the constructed dose–energy model of the antitumor drug.

Biography:

Gauri is a biotechnologist with an extensive commercial research and entrepreneurial background. Before founding Optra Systems, Inc., she was the founder and principal scientist at BioImagene Inc., a silicon valley based digital pathology company which was acquired by Roche Diagnostics. Gauri is responsible for enriching the domain knowledge of her companies, as well as involved in the strategic planning and business development activities. Gauri has extensive experience working in the genetics, cytology, microbiology, molecular biology, medical imaging and bioinformatics fields. Gauri was selected as a young scientist for various research programs in biotechnology and microbiology internationally. She has 11 U.S. patents published to her credit. She has published many research papers in international journals and has participated as a speaker in many international conferences. She is on the editorial and advisory boards of many prestigious journals and forums, including the Journal of Applied & Translational Genomics and the International Organization for Rare Genetic Disorders. Gauri was also awarded with the prestigious “Woman Entrepreneur Award" by the government of India.

Abstract:

Healthcare and life sciences are generating BigData. Rising costs of healthcare has presented an opportunity for developing newer, robust healthcare models for efficient treatment, likelihood prediction such as patients presenting with vague symptoms, disease prevention by pre-clinical identification and personalized treatment options for patients. iPhronesis™ is an advanced BigData Analytics platform, built to address specific patient centric functions. iPhronesis™ delivers the true power of biomedical BigData by integrating disparate data sources such as EMR/ EHR/ genomics/ imaging/ scientific literature etc., both structured & unstructured, applying powerful analytics, some which are based on machine learning and Bio Natural Language Processing(Bio-NLP) tools enabling better understanding of data, discovering hidden relationships and presenting results with real evidences. iPhronesis™ allows users to choose from a series of domain specific workflows & processes, customizing each step, and integrating with custom algorithms. Every workflow is publishable as APIs or presented to the user interface. When data such as EMR/ EHR are combined with images or with genomics, it allows for generating patient longitudinal views, representing a complete patient/ cohort profile, identifying patterns, which help identify risk factors, predict disease progression, accurate disease classification and efficacy of treatment such as drug dose modification, adverse side effect identification and effects with comorbidity, to name a few. As a platform, iPhronesis™ also integrates with mobile applications increasing patient engagement, retention and enabling organizations to proactively reach a wider audience with analytics based evidences.

Biography:

Dr. Juan C Carril is Director of the Genomics and Pharmacogenomics Department at EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, Corunna, Spain. He received his PhD from Santiago de Compostela University in 2000 defending the thesis “Genetic structure and profile of the populations of the Iberian Peninsula by means of markers (STRs and SNPs) of the human Y-chromosome”. He has published more than 40 scientific publications in the fields of Population Genetics, Forensic Genetics, Genetic Epidemiology and Pharmacogenetics, and over 40 papers at national and international conferences.

Abstract:

"Central Nervous System (CNS) disorders are the third problem of health in developed countries, with approximately 10% of the direct costs associated with drug treatment of doubtful profitability. There is an alarming abuse of psychotropic drugs worldwide and only 20-30% of patients with CNS disorders appropriates respond to conventional drugs. Differences in individual responsiveness to drugs may be due to defects in absorption, distribution, metabolism and excretion of the drug (ADME or pharmacokinetic processes), which causes problems of dose and/or toxicity, or there may also be a defect that hinders the mechanism of action of the active ingredient (pharmacodynamic processes) by molecular alterations in receptor binding, and transporters responsible for delivering the drug in to the target cell. Our study identifies the most informative genetic polymorphisms in the treatment of CNS disorders and thus design pharmacogenetics panels that help the physician to define the most appropriate therapeutic strategy for each patient. By characterizing a population sample of 90 individuals in whom the main polymorphisms for drug metabolism have been studied, there is evidence for their relationship in response to psychotropic drugs (CYP2D6, CYP2C19, CYP2C9, CYP3A4, CYP3A5, CYP1A2, CYP2B6, CES1, COMT, ABCB1, DRD2, DRD3, MAOB, GABRA1, SLC6A2, SLC6A3, SLC6A4, SLC22A1, ADRA2A, APOE, ACHE, BCHE, CHAT, CHRNA7, NBEA, PRKCE, OPRM1, PTGS2). We have defined what are the markers that provide more information for incorporation into specific pharmacogenetic panels for major CNS pathologies: Depression, Schizophrenia, Anxiety, Parkinson, Dementia, Pain disorder, Attention Deficit Hyperactivity Disorder (ADHD), and Epilepsy. "

Biography:

Oscar Teijido Hermida is the head of the Medical Epigenetics Department at EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, Corunna, Spain. He received his PhD in the University of Barcelona, Spain in 2007 with his Thesis titled: Biochemical characterization and location of the protein MLC1, involved in the Megalencephalic Leukoencephalopathy with Subcortical Cysts. During his scientific career in University of A Corunna (Spain), University of Barcelona (Spain), New York University (USA), and The National Institutes of Health (USA), Dr. Teijido achieved more than 20 scientific publications in the molecular genetics, biochemistry, and physiology fields and presented his work in more than 25 International Conferences and invited presentations.

Abstract:

Cerebrovascular disorders and stroke are the third leading cause of death in the US and in Europe with around 200 cases per 100,000 inhabitants per year and almost six million victims every year, according to the WHO. Furthermore, Metabolic Syndrome (MS) affects 20-34% of the population, primarily in developed countries. MS is characterized by low high-density lipoprotein (HDL) levels, high blood serum triglycerides, high blood pressure, abdominal obesity, and elevated fasting plasma glucose, which confers a higher risk for thrombosis and diabetes than average population. Population studies evaluate the genetic risk, i.e. the probability of an individual carrying a specific disease-associated polymorphism. Identification of risk polymorphisms is essential for an accurate diagnosis or prognosis of a number of pathologies. The aim of this study was to characterize the influence of risk polymorphisms associated with lipid metabolism, hypertension, and thrombosis in a large population of Spanish individuals affected by a variety of brain and vascular disorders as well as metabolic syndrome. We performed a cross-sectional study in 4415 individuals from a widespread regional distribution in Spain (48.15% males and 51.85% females), with cerebrovascular, metabolic, and mental disorders. We evaluated polymorphisms in a number of genes involved in obesity, cerebrovascular, and cardiovascular risk in our population and compared it with representative Spanish and European populations. We identified polymorphisms in ACE, AGT(235), IL6(573) as representative risk factors for vascular and lipid metabolism-related disorders in our population in comparison to reference data of Spanish and European individuals. Predominance of APOE-ε4 and reduced APOE-ε2 allele distribution compared to other representative Spanish and South European populations might be associated with Alzheimer’s disease or dementia-related disorders rather than vascular or lipid metabolism imbalance in our population.

Biography:

David Cheng is currently working in Sidra Medical and Research Center, Qatar. He is the division cheif of nuclear medicine and molecular imaging

Abstract:

"These questions could be answered with a single sentence: pharmacogenetics. What is Pharmacogenetics? Is the science that studies the actions and interactions between drugs, in each individual, based on their genome. Knowing the genetic polymorphisms of a patient shows whether a drug will make the intended effect according to the dosage from clinical trials, or require more or less dose, or the drug should be avoided and seek a therapeutic alternative. In general, patients are poly medicated, however the effect of various drugs administered together may be different (produce ineffectiveness or toxicity), different to what would happen when administered alone. Sometimes, even if a person could take the drugs individually according to the genetics, the drugs themselves could inhibit or induce the other. To successfully apply pharmacogenetics and make a prescription safely and accurately, many parameters should be taken into account, such as drug-drug interactions, drug-lifestyle, inhibitions and inductions and dose variation according to patient studied genes. All this information can only be interpreted together, using a tool like g-Nomic® pharmacogenetics software, developed by EUGENOMIC. This easy to use tool, crosses information concerning drugs taken by the patient and his genes to give a personalized report with all necessary information: interactions between drugs, including drugs with lifestyle habits, inhibitions and inductions and dose variation according to the patient's genes. FDA, CIPC, DWG among others, already state recommended genes to study for a customized prescription, and give prescription algorithms. Applied pharmacogenetics can indeed avoid a lot emergency cases, safe lives and money. But to correctly apply pharmacogenetics, a tool is needed since there are too many variables to consider. "

Biography:

Henri-Corto Stoeklé is currently working in Paris Descartes University, Centre Universitaire des Saints-Pères, Paris, France

Abstract:

Since 2006, the genetic testing company 23andMe has collected biological samples, self-reported information, and consent documents for biobanking and research from more than 1,000,000 individuals (90% participating in research), through a direct-to-consumer (DTC) online genetic-testing service providing a genetic ancestry report and a genetic health report. However, on November 22, 2013, the Food and Drug Administration (FDA) halted the sale of genetic health testing, on the grounds that 23andMe was not acting in accordance with federal law, by selling tests of undemonstrated reliability as predictive tests for medical risk factors. Consumers could still obtain the genetic ancestry report, but they no longer had access to the genetic health report in the United States (US). However, this did not prevent the company from continuing its health research, with previously obtained and future samples, provided that consent had been obtained from the consumers concerned, or with health reports for individuals from other countries. Furthermore, 23andMe was granted FDA authorization on February 19, 2015, first to provide reports about Bloom syndrome carrier status, and, more recently, to provide consumers with “carrier status” information for 35 genes known (with high levels of confidence) to cause disease. In this Debate, we highlight the likelihood that the primary objective of the company was probably two-fold: promoting itself within the market for predictive testing for human genetic diseases and ancestry at a low cost to consumers, and establishing a high-value database/biobank for research (one of the largest biobanks of human deoxyribonucleic acid (DNA) and personal information). By dint of this marketing approach, a two-sided market has been established between the consumer and the research laboratories, involving the establishment of a database/DNA biobank for scientific and financial gain. We describe here the profound ethical issues raised by this setup.

Biography:

"Ramón Cacabelos is Professor and Chairman of Genomic Medicine at Camilo José Cela University, Madrid, and President of the EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, Corunna, Spain. He received his M.D. from Oviedo, University, Ph.D. from Santiago de Compostela University, and D.M.Sci. (Psychiatry) from Osaka University Medical School, Japan. After a decade at the Department of Psychiatry in Osaka, he returned to Spain and focused his research activity on the genomics and pharmacogenomics of Alzheimer’s disease, neurodegenerative disorders, and neuropsychiatric pathology. He has published over 600 papers, 400 chapters, and 24 books. One of his major contributions is the first World Guide for Drug Use and Pharmacogenomics (2012)(www.pharmacogenomicsguide.com). He is Editor-in-Chief and member of the Editorial Board of several international journals, member of over 30 scientific societies, and President of the Spanish Society of Genomic Medicine and the World Association of Genomic Medicine. "

Abstract:

Alzheimer’s disease is a polygenic/complex disorder in which genomic, epigenomic, cerebrovascular, metabolic and environmental factors converge to define a progressive neurodegenerative phenotype. Conventional anti-dementia drugs are not cost-effective, and pharmacological breakthroughs have not been achieved for the past 10 years. Major determinants of therapeutic outcome in Alzheimer’s disease (AD) include age- and sex-related factors, pathogenic phenotype, concomitant disorders, treatment modality and polypharmacy, and pharmacogenetics. Different categories of genes are potentially involved in the pharmacogenetic network responsible for drug efficacy and safety. Pathogenic, mechanistic, metabolic, transporter, and pleiotropic genes represent the major genetic determinants of response to treatment in AD. In pharmacogenetic studies, APOE-4 carriers are the worst responders and APOE-3 carriers are the best responders to conventional treatments. Patients harboring a large (L) number of poly T repeats in intron 6 of the TOMM40 gene (L/L or S/L genotypes) in haplotypes associated with APOE-4 are the worst responders and patients with short (S) TOMM40 poly T variants (S/S genotype), and to a lesser extent S/VL and VL/VL carriers, in haplotypes with APOE-3 are the best responders to treatment. Only 25% of the Caucasian population are extensive metabolizers for trigenic haplotypes integrating CYP2D6-CYP2C19-CYP2C9 variants. Patients harboring CYP-related poor (PM) and/or ultra-rapid (UM) geno-phenotypes display more irregular profiles in drug metabolism than extensive (EM) or intermediate (IM) metabolizers. Among 111 pentagenic (APOE-APOB-APOC3-CETP-LPL) haplotypes associated with lipid metabolism, carriers of the H26 haplotype (23-TT-CG-AG-CC) exhibit the lowest cholesterol levels and patients with the H104 haplotype (44-CC-CC-AA-CC) are severely hypercholesterolemic. Epigenetic aberrations (DNA methylation, histone modifications, miRNA dysregulation) in genes configuring the pharmacoepigenetic cascade also influence the response/resistance to drugs. Consequently, novel strategies in drug development, either preventive or therapeutic, for AD should take into consideration these pharmacogenetic determinants for treatment optimization.

Biography:

My name is Amro Akasha is a undergraduate in the University of Gezira Faculty of Medicine and also volunter in many national and international organization like Y-PEER and SNO and many others.

Abstract:

"Female circumcision in Sudan is one of the deadly traditions in Sudan that causes maternal death each year. Female circumcision or female genital mutilation is defined by the WHO as the following: “Female genital mutilation (FGM) comprises all procedures that involve partial or total removal of the external female genitalia, or other injury to the female genital organs for non-medica reasons”. This fatal tradition have costed the life of 100s of mothers in Sudan and especially in Portbill a small village at the outskirt of the State of Gezira that holds a population of three thousand people and about 300 families. A small statistics was made during the past couple of years on the rate of maternal mortality in the village during the past 5 to 6 years and the result were the following: From 2010-2011 the rate of maternal death was 14% mostly due to post mortem hemorrhage From 2011-2012 the rate on maternal death was 16% From 2012-2014 the rate on maternal death was 16-17% From 2014-2015 the rate on maternal death was 15% From 2015-2016 the rate on maternal death was 15-14% Due to the philosophy of our college which was built on community medicine orientation we were very involved with our community thus we applied our knowledge on the community and discussed the issues. One of the greatest issues that caught my attention was the high rate of maternal death in this small village thus I decided to form a research were I discovered that 90% of the female gender in the village were mutilated which struck my mind to the thought that this is the leading cause of maternal death in this village so I took a stand against this unorthodox habit and formed a small committee of highly qualified doctors and medical students who found this subject interesting and started educating the village on the danger of this act and why it should be stopped. My outcome from this research is to decrease maternal mortality in Portibill by denying this act of tradition that is one of the cause’s maternal deaths. "

Biography:

Naveen Kumar Kaushik did his Ph.D and Postdoctoral studies from ICGEB New Delhi. He is now Assistant Proffesor at Amity University, Noida-UP. SERB-DST has awarded him Young Scientist grant and he is working on malaria preventive medicine. He has published 17 papers in reputed journals has been reviewed several publications.

Abstract:

"Infectious diseases affects all over the globe and controlling diseases like Malaria, TB and AIDS remained mystery as we have no credible vaccine and on the other hand the parasite has developed severe resistance against almost all drugs available (Visser et al 2014). Such a scenario underscores the urgency for identification of safe, effective and affordable therapeutic strategies for cure of such menacing diseases. Throughout human history natural products have remained prime sources for most of man`s needs including drugs. Products of plants like Cannabis sativa (used for treatment of sleeping disorders, autoimmune diseases and glaucoma), Narcissus spp. (use to treat Alzheimer’s disease), Taxus baccata (used for treatment of breast cancer), Cinchona succiruba (used to treat malaria), have been in use as medicines for thousands of years. Indeed several drug molecules of modern medicine e.g. aspirin, atropine, cocaine, galantamine hydrobromide, quinine, opium, paclitaxel etc. have been obtained directly from plants (Lahlou 2013). Molecular diversity of the biological world is amazing in many ways. In a sense the secondary metabolites produced by different organisms bear testimonies to the threats and challenges faced by them over the course of millions of years of evolution. While we don’t know why a plant like Cinchona should produce Quinine that cures malaria in man but we know that Nature’s molecules are “experienced” enough to navigate through cell membranes and to recognize binding proteins in target cells. Another benefit of searching antimalarial plant products that they have ability to become the part of daily diet e.g. Phyllanthus, Curcuma, Syzygium etc. which can help by three ways: (a) As we know that native infections are best source for developing long lasting and sterile immune protection. If we maintain safe drug bullets always at a certain basal level in blood stream to tackle the parasite, it will help in peak infection season making native infection to generating immune response and not a disease, as bullets are already present to tackle them (Behet et al 2014). (b) Secondly it has been established that these plant products have immune booster properties e.g. Chawanprash an ancient formulation that is being recommended during winter to take care of common flu and other associated disease. (c) Thirdly it will also act as a source for drug like novel metabolite which on purification may act as novel Active Pharmaceutical Ingredients. Recently it has also been shown that nature derived crude source of drug can overcome parasite resistance and nature’s combinatorial approach make parasites to take longer to evolve resistance (Elfawal MA 2015) and this may also help in increasing the life span of the therapy. Here, I am working on same aspect and we have securitized several plant products which have prophylactic and immune booster action in context of malaria which may serve as a part of daily diet. These products may play a critical role in controlling malaria in endemic regions."

Biography:

"Lars von Olleschik-Elbheim has completed his PhD in medical microbiology at the age of 33 years from Westfälische Wilhelms-Universität, Münster, Germany. In the past 17 years he has been working for both pharmaceutical and diagnostics companies in various positions. Dealing with the diagnostics and treatment of environmental, diet and behaviour related diseases, his interest became focussed on the effects of personalized nutrition within the frameset of personalized medicine. Within this context he is currently focussing on the effects of clinoptilolite zeolite, Vitamin D, and adaptogens, when it comes to stress and age related diseases and anti–ageing in general. The proper use of companion diagnostics for consultation and monitoring is one of his additional topics of interest in regard to personalilized nutrition and anti ageing. "

Abstract:

"Clinoptilolite is an outstanding microporuous material with a superlarge surface of volcanic rock origin with special selective binding capacities towards heavy metals, small positive charged molecules, and even viruses. Its very interesting, thqt encages mainly the “bad boys” and thus supports their inactivation and depletion from the human body. Used since thousands of years by men and even being part of instincive activities in some animals it was more or less fogotten until the Tschernobyl catastrophy led to intense research activities in order to protect the health of the people as good as possible. Clinoptilolite showed to be the best material to prevent the environment from further intoxication and it is even capable of depleting substances like radioactive Cesium out of the human body. Nowadays there is a rising amount of publications with case reports and clinical studies showing that the “typical diseases of the elderly”, like e.g. diabetes, cancer, ostephorousis, some forms of brain damage can be slowed down or stopped in their progression, sometimes effectively treated by the use of clinopotilolite. By blocking toxic compounds from interfering with internal regulatory processes and the capability to deplete them from the human body it shows anti-aging effects e.g. on skin, liver, heart, brain, bones, wound healing, hair, and overall endurance. Combined with the right diagnostics clinoptilolite is more and more prooving as a very good part of the medical toolbox. "

Biography:

Seyedeh Afrooz Azimi has condidated in PhD degree from Mashhad Medical University . She is the Quality Manager in Atieh Hospital in Tehran .She researches on NSCLC Diagnostic biomarkers in Dr. Masih Daneshvari Hospital ,lung Center of Shahid Beheshti Medical University and she cooperates to published texts in scientific & research center.

Abstract:

"Personalized Medicine in Lung Cancer:The concepts of personalized medicine can be applied to new and transformative approaches to health care. Personalized health care is based on the dynamics of systems biology and uses predictive tools to evaluate health risks and to design personalized health plans to help patients mitigate risks, prevent disease and to treat it with precision when it occurs. Every person has a unique variation of the human genome.Although most of the variation between individuals has no effect on health, an individual's health stems from genetic variation with behaviors and influences from the environment. Personalized medicine can also be used to predict a person’s risk for a particular disease, based on one or even several genes. One of the largest issues is the fear and potential consequences for patients who are predisposed after genetic testing or found to be non-responsive towards certain treatments. This includes the psychological effects on patients due to genetic testing results. The right of family members who do not directly consent is another issue, considering that genetic predispositions and risks are inheritable. The implications for certain ethnic groups and presence of a common allele would also have to be considered. A biopsy on a lymph node under collarbone is positive for non-small cell lung cancer. The patient had no risk factors commonly associated with lung cancer, never smoked ,was young with no family history. In addition to tobacco-related lung cancer, environmental exposures such as radon, secondhand smoke, and asbestos increase the risk for lung cancer. Members of a family live in the same home and eat the same diet, They may be exposed to dad’s cigarette smoke!” We received the whole information of patients with NSCLC In this survey that NSCLC is Multi factorial disease and related to extra factors .If we want to predict the risks of the disease ,we need to know more about the psychological effects, life style and the personal behaviors more than genetic and Direct exposed parameters .Maybe in future we could to say there is difference for description of Biomarkers in cells in one by one persons and we need to monitor every patient to control and treat by the best treatment ! "