5^th International conference on Predictive, Preventive and Personalized Medicine & Molecular Diagnostics December 01-02, 2016 Valencia, Spain

Biography:

Jack Kushner graduated from Tulane University and University of Alabama Medical Center. He did a surgical internship at George Washington University and a general surgical residency at the University of Michigan. He served as a combat surgeon at the 91st Evacuation Hospital in Vietnam and finished his Neurosurgical Residency at Wake Forest University. He is a Board Certified Neurosurgeon and practiced neurosurgery in Annapolis, Maryland. He obtained a Master's Degree in Finance from the University of Maryland while practicing neurosurgery. Later he founded a medical transcription company in Bangalore, India and worked on a medical telemedicine and surgical simulation project in Israel. He is the author of four books. He has received an Honorary Professor of Medicine and Healthcare Award in Cambridge, England and he was made an Honorary Director General of the World Forum in Oxford, England. He is a former Board member at Tulane University. Presently he is working with George Washington University to create a Genomic Medical Center in Viet Nam. He has lectured at many universities in the USA and around the world.

Abstract:

While most of us use and enjoy the Internet everyday, we do not imagine that our brain has more interactivity and connections than the entire worldwide web.  In fact, twenty years from now, there will still be more connections and interconnections in one human brain than in all the servers and networks used by the Internet.  For it is the brain that separates humans from all others in the huge animal kingdom.  Our brain can receive information via our olfactory, visual, tactile, and auditory senses simultaneously. It can compute information stored in its recesses, have decision making capabilities based on incoming information, and can immediately take action by controlling other parts of the bodies.

    In February, 1943, Erwin Schrodinger (1887-1961) a Nobel Prize physicist from Austria, gave a lecture at Trinity College, Dublin, Ireland entitled “What is Life?”  He identified the problem as follows: “incredibly small groups of atoms much too small to display exact statistical laws….play a dominating role in the very orderly and lawful events with a living organism.”  This presentation explains how we concentrate and focus and cause these particles to go into an organized formation and initiate enzymatic activity.

  In addition, we shall discuss how mutations occur in somatic cells including those neurons in the brain. These mutations occur more often in the genes a neuron most often uses.  By sequencing individual cells rare mutations are illuminated.

Biography:

Joan Ballesteros has completed his PhD in Mount Sinai Hospital, New York. In 1999 he founded Novasite Pharmaceuticals in San Diego, CA as CSO pioneering screening by flow cytometry. In 2006, he moved the technology to Spain to launch Vivia Biotech as Chairman and CSO, to develop a personalized medicine test for hematological malignancies, in collaboration with the Spanish hematologist association Pethema. He has authored more than 40 scientific publications, and is an inventor in 4 patents

Abstract:

We have overcome the limitations of 40 years of ex vivo testing by developing a novel test (based on studying the ex-vivo sensitivity to drugs) to predict the complete remission (CR) rates after induction chemotherapy with cytarabine (Ara-C) and idarubicin (Ida) in 1st line AML.

This has been an observational clinical trial where bone marrow samples from de novo AML adult patients in Spanish PETHEMA centers were included

Whole marrow samples maintaining their Native Environment were incubated for 48h in well plates containing Ara-C, Ida, or their combination. Pharmacological responses are calculated using population models. Induction response was assessed according to the Cheson criteria (2003). Patients attaining a CR/CRi were classified as responders and the remaining as resistant

390 patient samples were used to calculate the dose response curves synergism and 155 patients were used for clinical correlation. The strongest clinical predictors were the Area Under the Curve (AUC) of Ara-C (P=1.34E-05) and IDA (P=3.9E-05). The GAM models revealed a significant relationship (R²=0.45 and deviance explained=45%) between these predictors and higher probabilities of post-induction resistance.

The test obtains a high Specificity and Positive Protective Value (95% and 83%) and a lower sensitivity (53%) with a general prediction of 83%. Interestingly, the 5 cases that the test identify as resistant but were clinically sensitive have high level of minimal residual disease. On the other hand, the test does not properly identify 22/155 that are clinically resistant and the test predicts as sensitive. This mismatched subgroup mimics the problems from molecular markers where a resistant clone present in a minority of leukemic cells cannot be detected yet drives the patient response.

This novel test is able to predict the clinical response to Ida + Ara-C induction with overall correlation and predictive values of 83%, higher than ever achieved. Thus this novel test may be valuable information to guide 1^st line patient therapy

Biography:

Irina V. Zhegalova is a member of Young Research Team under the aegis of EPMA (Brussels, EU) and ISPM (Tokyo, Japan). She is a participant and speaker at international congresses in predictive preventive and personalized medicine worldwide. Irina is an author of several articles in application of bioinformatics in personalized medicine. Nowadays Irina activity performs a research in genomics and clinical bioinformatics, interested in e-Health.

Abstract:

Future and its tool, i.e., Translational Medicine (TraMed), represent an innovative model of healthcare services to consolidate advanced healthcare and robust platform for relevant branches of predictive diagnostics, personalized therapeutics and preventive drugs. To achieve the implementation of PPPM concept into practice, it is necessary to create a new strategy based upon the subclinical recognition of biomarkers long before the disease clinically manifests itself. This strategy would secure preventive measures whose personalization could have a significant influence on demographics!

Meanwhile, penetration of new technologies into the market would demand the reforms not only in the area of healthcare, but in medical education as well. Therefore, the problem of the preparation of specialists of the newest generation to secure priority in growing up medical doctors as creative artists, is becoming particularly urgent, and would require significant revision of training programs and curricula of the higher education as applicable to the medical schools. Modernization and integration of widely accepted medical and teaching standards require consolidation of both the life sciences and medicine that may become the conceptual basis for the medical curricula. The main goal of this training is not to achieve advanced training and expansion of technological skills, but to provide development of novel multifaceted approaches to build academic schools of the newest generations and to outline curricula and courses to suit markets of the newest medical platforms.

PPPM consists of a wide variety of tests and tools including so much complicated areas as networking, mathematic modeling, nanotools and nanotechnologies, cloudy and mobile technologies to suit the requests and standards of the new healthcare model. 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. Taking into consideration the current trends and personal experience, we have made first steps towards direct involvement in the modernization of the healthcare model. Guided by the above-mentioned facts, a non-canonical approach has become setting up under the aegis of EPMA (Brussels, EU), PMC (Washington, DC, USA) and ISPM (Tokyo, Japan) a unique team of medical students, young researchers, entrepreneurs in drug designing, clinicians and administrators of the future to come. Used as an educational-methodical kernel is a three-level basic education system (undergraduate, graduate, and postgraduate) to suit the continuing education. Group and individual vectors as part of the basic inventory are represented by translational medicine, bioinformatics, drug design, translational tools, regulatory courses, etc.

The model for accelerated development of continuous vocational education (CVE) in PPPM and TraMed is based on the combinatorial approaches (competence, module-type approach, personal activity, program-design, and problem-oriented) to the elucidation of innovative processes of modernization of the existing educational model. The application of the model for development of CVE has required a new type of the infrastructure of the Curricula. PPPM whilst secured by the upgraded educational system would offer great and real promise for the future. And the next generations will speak about the XXI century as a time, when healthcare services became predictive and preventive, and its outcomes – secured and guaranteed!

Biography:

Muhammad Irfanullah Siddiqui, is Full Professor of Community Medicine and Public Health, Umm Al-Qura University. He is also responsible for Research and Evaluation unit, Students Mentoring Program. He served at very important and highly academic position including, Chairman, Department of Community Health Sciences, of Hamdard, Baqai and Bahria universities. He was first Vice Principal of Bahria University and Dean Faculty of Health Sciences, Baqai University. He is Chief Editor of famous book of Community Medicine and Public Health. Dr. Siddiqui is editor and reviewer of journals of academic excellence. He is MBBS graduate of Dow Medical College and did his MPH, MCPS, FCPS and MPhil in the field of Community Medicine and earned various awards in the field of education.  He is visiting professor Karachi University, Aga Khan University, Ziauddin University, Dow University of Health Sciences, Institute of Business Management and many other institute of international repute. He was invited by Oxford Brooks University, England to deliver a talk on Primary Health Care to its Faculty and postgraduate students. He has conducted more than 200 research methodology workshops at national and international level. Dr. Siddiqui chaired sessions in many national and international conferences Currently he is working on various funded projects of public health importance. Recently he participated in first International Conference of Holistic Medicine held at Philadelphia from 14-15^th July 2016, as key note speaker and Chaired the sessions of Day2

Abstract:

Background: Conducting research involves many issues including selection of appropriate study design, application of proper sampling technique and adequate sample size, data collection procedure, data presentation and application of test of significance. Research methodology workshop may play important role in understanding these concepts for fostering research in the country.

Objective: This research was conducted to compare the pre and post workshop knowledge of the participants regarding study design, sampling technique, sample size estimation, summarization, presentation and analysis of data for future application in practical research.

Methods and material: This multicenter study was conducted in 12 major cities of Pakistan. A total of 300 consultants were selected randomly from various medical colleges. All the participants were given a pretest before starting the workshop and then again after all the session but before the certificate distribution. The consultants were trained for two days for the concepts like criteria for selecting research topic, study design, sampling technique, application of test of significance etc.

Results: A total of 270 participants filled both pre and posttest. There were 15 questions related to various issues in research including measurement of risk, summarization and presentation of data,  and application of test of significance etc. and a highly significant difference was observed between mean score 4.3 and 9.8 respectively for pre and post test with p value less than 0.000. Significance difference were also observed for other variables e.g. study design, sampling technique, data analysis etc. However no significant difference observed for data presentation.

Conclusion: It is concluded that research methodology workshops are useful in improving the knowledge of the participants and can foster the research in country if conducted regularly in the teaching institutions.

Biography:

Sukhwinder Singh is an Acupuncture Therapist at Guru Kirpa Acupuncture Health Centre, Punjab, India. He has attended 15 national and international acupuncture conferences and presented acupuncture papers in 9 conferences.

Abstract:

Abstract : In the present paper , 18 cases of facial paralysis were treated using acupuncture with  perpendicular  and  point  to  point  acupuncture .  Among them 11 cases were cured ( 61.11 % ) , 6 showed make effect ( 33.33 % ) and 1 improved  ( 5.55 % ) , an effective rate of 100 % . Analysis shows point to point acupuncture needling along with routine acupuncture have far more superior results.

Bell’s palsy or facial paralysis is characterized by weakness of the muscles supplied by the facial nerve, due to inflammation and swelling of the facial nerve within the facial route . It is most common in the persons who is over 30 years of age and in both sexes equally  , though we got cases of young patients aged 22 – 27 years .

Signs and symptoms: sudden onset of unilateral total or partial paralysis of the facial muscles .    Numbness on the affected side. Loss of taste. Excessive tear production on affected side .

Treatment methods : acupuncture points selected were xiaguan ( s-7 ) , jiache ( s-6 ) , taiyang ( extra ) , dicang ( s-4 ) , sibai ( s-2 ) ,yifeng ( tw -17 ) ,fengchi ( gb-20 ) ,yangbai ( gb-14 ) , baihui ( du-20 ) , hegu ( l.i.-11 ) , yanglingquan ( g.b. -34 ) , zusanli ( st-36 ) , neiting ( s-44 ).

Therapeutic effect :

Cure : after treatment , symptoms and signs disappear completely , both sides of face are symmetric , and the sensory and motor  functions recover completely .                                                               

Marked effect : symptoms and signs disappear , both sides of faces are symmetric, senory and motor functions return , but patient still feels numbness  on affected side .                          

Improvement : symptoms and signs almost disappear, but still evident when twitching the nose , inflating the cheeks,or laughing                                                                                       

No effect : after 10 sessions of treatment , no improvement of signs and symptoms .

Results :    all the 18 cases of facial paralysis were treated using acupuncture with  perpendicular  and  point  to  point  acupuncture .  Among them 11 cases were cured ( 61.11 % ) , 6 showed marked effect ( 33.33 % ) and 1 improved  ( 5.55 % ) , an effective rate of 100 % .

Summary : based on the theory of traditional chinese medicine , it is held that wind and cold of external origin which invades the channels traversing the face and disrupt the flow of qi and blood , preventing the vessels and muscles from receiving the necessary nourishment . Treatment is directed towards spreading the qi through the channels of the face

Biography:

Kamal Kumar Chaudhary has completed his Orientation Course conducted from the Department of Drug Administration for entrepreneurs of Modern Drug sale and distribution in Nepal at the age of 25. He is the chief executive officer of Princess Pharma Pvt. Ltd, a drug sale and distribution company. He has researched in fields such as the approach of alternative treatment of patients, introduce and implement new technological treatment methods. He is keen on importing new technological measures to treat the patients and involves himself in different seminars and conferences to stay updated on present medical technological advancement

Abstract:

Personalized medicines is considered to be one of the most significant innovation on the customer segments can be explained by the personalized of medicines and the business models in personalized medicine have to cope with this change in thinking . In past this also explains why some medicine designed on the basis of enable the bio medic able community to make stride toward the development of personalized medicine. In part computational biology and the technology becomes increasingly economical medical costs will personalized medicine applies knowledge about the patient individual characteristics in relation to health and current pharmacogenomics and personalized medicine gene expression signature in peripheral blood cells from medical students exposed personalized medicine as well as systems biology poses the challenges of developing new models to capture new behavioural trends as the adoption of new medical standards only approach based on social network analysis for personalized medicine has been medicine is experiencing a paradigm shift of major proportion epidemiobgy examined populations and was the dominant force driving medical practice and policy in the latter half of the 20th century this led to significant successor personalized medicine for cancer entails tailoring therapy for each patient based on unique features of the patients tumour physiologic molecular genetics and epigenetic medical science school of pharmacy and university of south Australia Adelaide. South Australia flinders centre for cancer prevention and control Flinders University, Bedford park, south Australia personalized medicine has gained significant attention. Also necessary will be policy development concerning the ethical legal and social issues of genomic medicine and an educated and ready medical community with clinical practice guidelines for genetic counselling and genetic testing personalized medicine is a novel medical modal with all decisions and practices in whatever ways possible the ultimate goal of personalized medicine is to supply optimized medical care and outcomes for each individuals

Biography:

Aurea Lima was born at 10^th October of 1979. She completed Pharmaceutical Sciences degree in 2004 at CESPU, the Master degree in Medicine and Molecular Oncology in 2007 at Faculty of Medicine, University of Porto (FMUP), the Doctor Degree in Medical Sciences in 2014 at Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, and this year she completed the Integrated Master Course in Medicine at ICBAS.

Aurea Lima was the first Portuguese researcher to be honored by the Scientific Committee on International Congress Anti-Cancer Treatment) for her research work in the area of genetic polymorphisms of TYMS (thymidylate synthase) and Non-Small Cell Lung Cancer.

Her PhD work, developed in ​​Molecular Oncology and Viral Pathology Group at Portuguese Institute of Oncology of Porto, demonstrates the influence of polymorphisms in genes encoding for proteins involved on Methotrexate action mechanism in the therapeutic outcome of Rheumatoid Arthritis patients under Methotrexate therapy.

With fifteen papers in Scientific Journals with International Circulation, she is currently Professor and Researcher at Instituto de Investigação e Formação Avançada em Ciências e Tecnologias da Saúde, CESPU

Abstract:

During this century a new field has arisen – the personalized medicine! Medicine was always personalized but only in this century the integration of patient genome was considered as an important factor responsible for intra- and interpatient drug therapeutic outcome variability. One of the major contributors for this development is Pharmacogenomics (PGx), which represents the use of individual genetic data to predict therapeutic outcome and tailor the best medical intervention to each patient. During the past decade there has been a considerable research effort towards PGx. But, translating PGx knowledge into clinical practice still a major challenge, particularly in case of highly complex diseases such as rheumatoid arthritis (RA).

RA is a systemic autoimmune disease characterized by chronic inflammation of multiple peripheral joints for which the “gold standard” drug is methotrexate (MTX). Literature suggests that RA patients’ genetic profile may have a significant role in therapeutic outcome variability observed among patients, particularly genes encoding proteins involved in RA pathophysiology and those involved in MTX action mechanism. MTX action mechanism include: 1) MTX membrane transport pathways, a network of transporters which allow MTX influx and efflux, that belong to two major superfamilies’ - solute carriers (SLCs) and adenosine triphosphate (ATP)-binding cassette (ABCs) transporters; and, 2) MTX intracellular pathways, which include polyglutamation, folate, methionine, adenosine and de novo synthesis of purines and pyrimidines pathways. From 49 SNPs in genes encoding for proteins involved in MTX action mechanism studied in 233 RA patients, 14 genotypes could be predictors of MTX non-response, as follow SLC22A11 rs11231809 T carriers, ABCC1 rs246240 G carriers, ABCC1 rs3784864, TYMS rs34743033 3R3R, TYMS rs34743033+rs2853542 3RC3RG, TYMS rs34489327 6bp- carriers, MTHFR rs1801131 AA, MTHFR rs1801133 TT, MS rs1805087 AA, MTRR rs1801394 A carriers, ATIC rs2372536 C carriers, ATIC rs4673993 T carriers, ATIC rs7563206 T carriers and ATIC rs12995526 T carriers. In addition, 8 genotypes could be predictors of MTX-related toxicity, as follow SLC19A1 rs7499 G carriers, SLC46A1 rs2239907 GG, SLCO1B1 rs4149056 T carriers, ATIC rs2372536 G carriers, ATIC rs3821353 T carriers, ATIC rs7563206 CC, ATIC rs12995526 CC and ADORA2A rs2267076 T. Interestingly, from the 24 studied genes encoding for crucial proteins involved in MTX action mechanism, 12 genes demonstrated to be putative predictors of MTX therapeutic outcome. Therefore, genotyping patients according to these genetic markers may be helpful to identify which patients will not benefit from MTX treatment, highlighting the relevance of developing the field of personalized medicine. Nevertheless, and despite the potential of these findings, translation into clinical practice requires larger and multicentric studies in order to clear endorse the utility of the recently gather results

Biography:

Daniel Achinko completed his PhD in Biochemistry from the University of Egerton, Njoro, Kenya in May 2013, under a grant at the International Center for Insect Physiology and Ecology (icipe) while working on the transgenesis of malaria vectors as a control technique against malaria. He took special interest in bioinformatics of therapy design leading him to a Postdoc at the National Institutes of Health in the USA. Through a joint collaboration with PepVax/ImMAGEbio, a biotechnology company currently working on a Triple Negative Breast Cancer (TNBC) related drug, he became vice president of the scientific department. The current bioinformatics analysis performed by their group in driving the right immune response against antigens has been included in the National Genome Center Program for Innovation to solve the disease burden. He has published several articles on cancer antigenic epitopes driving proper immune response

Abstract:

LCK gene known as lymphocyte-specific proto-oncogene, is associated with coordinated expression of Major Histocompatibility Complexes (MHC), class I and II T-Lymphocytes, in response to physiological stimuli, mediated through a combined interaction of promoters, suppressors and enhancers. Proximal and distal promoters, functioning independently and developmentally regulated, favor proper LCK transcription. The former is thymocyte related while the latter involves all stages of T-cell development. LCK is genetically and functionally associated with several diseases including HIV and EBOLA, serious threats to human existence. LCK driven immune selection research for therapeutic intervention derives little scientific interest.

The last Ebola outbreak (2014), emerging from Guinee, and expanding  to Liberia, Sierra Leone, Nigeria and USA, pushed the scientific community to find an urgent therapy against the disease. Our work focused on looking at HLA class I & II subtypes expressed after the Ebola virus (EBOV) attack with focus on the most potent related antigenic epitopes generating favorable immune response to eliminate the disease. LCK dominantly observed in genetic interaction analysis was associated with T-cell antigen receptor (TCR)-linked signal transduction pathways hence differentially selecting for CD4 (MHC II) and CD8 (MHC I) immune variants.

Data obtained from Gene Omnibus database at NCBI, showed two LCK related disease clusters, grouping EBOV with different cancer types and a down regulation of most CD8 immunogenic variants (HLA A, B, C) compared to CD4 variants. This MHC expression pattern, suggests a careful regulatory pattern for LCK and related expression of T-cell immune variants whose antigenic specificity is key to resolving the disease burden. We are currently using modern genetic technology to engineer the right LCK variants required to drive downstream expression of the required MHC class I immune variants for a specific pathogen, which could be further designed for therapeutic applications against Ebola and related diseases

Biography:

Iván Tellado is Bachelor in Biological Science from University of A Coruña, Spain (1998). He is the director of Digital Diagnosis at the EuroEspes Biomedical Research Center. He has published more than 15 papers in reputed scientific journals. His scientific research has been focused on the study of the genotype-phenotype relationship on brain, in particular in age- and genotype-related changes on brain activity networks

Abstract:

Vascular Dementia (VD) is the second cause of dementia in the world. Blood pressure (BP), which it is regulated by the renin-angiotensin system (RAS), is associated with VD. The AGT gene belongs to RAS but little is known about its role in the occurrence and progression of  VD. To clarify the physiopathological role of AGT in VD, we investigated the influence of two SNPs (rs699 and rs4762) associated with arterial hypertension and cerebrovascular pathology on brain activity in VD patients. We applied qEEG in 65 VD patients divided in three groups according to their vascular risk associated with AGT genotype: (i) A group: 15 patients with high vascular risk (carriers of M allele in AGT174 and T allele in AGT235); (ii) B group: 38 patients with moderate vascular risk (carriers of M allele in AGT174 or T allele in AGT235); and C group: 12 patients with low vascular risk (no carriers of risk variants). Further analyses were performed using the eLORETA software. To visualize resting-state synchronization across frequency bands in large-scale functional networks, two lagged functional connectivity measures (lagged coherence and lagged phase synchrony), implemented in the eLORETA statistical package, have been proposed.

We found that VD patients with higher genomic risk had higher connectivity in delta band between frontal, fronto-temporal and fronto-parietal regions. Our findings may indicate that high blood pressure disturbs the functional connectivity at the frontal level. The slow hyperconnectivity observed may be a direct reflection of neural damage caused by arterial hypertension in susceptible individuals

Biography:

Biography

Elena G. Fokina completed her PhD when she was 23 at Moscow Medical Dental University and postdoctoral studies in infectious diseases based 2nd Infectious Clinical Hospital in Moscow. She is a postgraduate of Central Scientific Research  Institute of Epidemiology, (Moscow, Russia). The author of the invention "Method of early prediction of the severity of diphtheria in adults" & "Human biochemical passport". She has published over 60 medical articles in Russian and a few manuscripts in the foreign journals. Her research interests include infectious diseases, blood coagulation disorders, biochemistry & adaptation changes. In 2014, the European scientific community (Hannover) awarded Elena G. Fokina the medal "Robert Koch".

Abstract:

Purpose of the work.

To study the hemostatic system changes in the dynamics of infection in patients with erysipelas to clarify the pathogenesis of hidden hemolysis and correction of drug therapy

Methods.

The degree of disfibrinogenemia (fibrinogen and D-dimer level), the functional activity of the platelets (aggregation with ADP) and the erythrocytes (aggregation with lanthanoid (LaCl₃) and protamine sulfate (PS)) were studied in 60 patients with erysipelas. Also, we have studied endothelial dysfunction manifested in the decrease of athrombogenicity of vascular wall endothelium (antithrombin III and protein C) and in the increase of adhesive properties of the endothelium (von Willebrand factor (vWf).The comparison groups comprised patients with focus of inflammation localized on the face (n=24), and the legs (n=36) at various stages of the disease (day 1-3; 4-6; 7-10; and 11-15 from the onset of the disease), undergoing in hospital treatment in Moscow 2^nd Clinical Hospital for the Infectious Diseases.

Results and discussion.

The thesis, according to which the rate of hemorrhagic complications in leg erysipelas is by 3,9 times higher than in facial erysipelas, was confirmed by laboratory findings.  A significant decrease of protein C was noted in patients with leg erysipelas and concomitant chronic venous insufficiency. We have found increased D-dimer and decreased α₂-macroglobulin levels. The signs of intravascular (latent) hemolysis (the decrease of haptoglobin concentration and the increase of indirect bilirubin and LDH blood level) with the increase of erythrocytes deformability (aggregation with LaCl₃ by 37%) and the decrease of elasticity (aggregation with PS by 2 times)  - have been identified as one of the main factors for DIC-like syndrome in erysipelas.

Conclusions and recommendations.

The risk of developing severe (hemorrhagic, bullous-hemorrhagic) erysipelas form in lower-limb is higher, than in facial, OR = 9,88 [2,81; 34,7]. Signs of intravascular hemolysis are the indication for drugs that improve the rheological properties of blood.

Biography:

Malakoudis Eleftherios is a Greek citizen who has finished the bachelor studies of Medical Faculty of Novisad, Vojvodina, Yugoslavia in 1995. After the studies he entered the field of Medical Devices and rapidly reached senior managing positions. Soon enough he founded ALVEK Medical Implants, a company which is among the top 50 European companies of this field. Among others, currently he is holding the General Director’s position at MEDFIT Hellas (www.medfit.gr). His constant will for unification of the Markets in Balkan and Eastern European Countries and of course his scientific background nominates him as an active and really effective corporate entity in this part of the world

Abstract:

Abstract:

Genomics in the prediction of adverse cardiac events is strongly demonstrated in the literature. Stent thrombosis, in-stent restenosis and dual antiplatelet therapy tolerance seem to be the fields of the early prediction of relevant dependence of the human genomic status. Coronary angioplasty is the interventional approach of the inner lumen of the coronary arteries after a severe thrombus blockage. An intraluminal prothesis is advanced percutaneously through a wire to the target vessel and after a successful expansion is restoring the physiological anatomy of the lumen maintaining the proper blood flow.

The European Guidelines are suggesting Dual AntiPlatelet Therapy (DAPT) from 6 to 12 months. Despite of the effectiveness of the DAPT to avoid thrombus formation, one limitation is severe bleeding and of course patients with stent thrombosis (ST).

The second limitation is in-stent restenosis (ISR). In-stent restenosis is the phenomenon of the reclosure of the stent implants in the target vessel after a successful angioplasty.The last projected topic about the prediction of an adverse cardiac event is to improve coronary heart disease through genetic profiling.

1. CYP2C19*2 and CYP2C9*3 alleles are associated with stent thrombosis: a case– control study. (by A. Harmsze et al., doi:10.1093/eurheartj/ehq321) This case–control study aimed to determine the influence of genetic variations related to the pharmacokinetics and pharmacodynamics of clopidogrel on the occurrence of ST in patients who were on clopidogrel and aspirin treatment at the time of the event. The conclusion is that carriers of the CYP2C19*2 and CYP2C9*3 loss-of-function alleles were at a 1.7- and 2.4-fold increased risk of developing ST, respectively. The influence of these genetic variants was most profound on the risk of subacute ST. Personalized therapy targeting patients who carry these genetic variants might help to improve the clinical outcome after stent implantation.

2. The Cardio Gene Study: genomics of in-stent restenosis. The Cardio Gene Study is designed to understand ISR. Global gene and protein expression profiling define molecular phenotypes of patients. Well-defined clinical phenotypes will be paired with genomic data to define analyses aimed to achieve several goals. These include determining blood gene and protein expression in patients with ISR, investigating the genetic basis of ISR, developing predictive gene and protein biomarkers, and the identification of new targets for treatment.

Genomics in Action: Seeking To Improve Coronary Stent Therapy Through Genetic Profiling (Elizabeth G. Nabel, M.D.) Coronary heart disease is the leading cause of death in the United States and other industrialized countries. To improve the outlook for the 13 million Americans suffering from this common disorder, a laboratory that recently joined the National Human Genome Research Institute (NHGRI) is tapping into the power of genomics to develop better therapies. Of course further investigation and larger trials have to be scheduled and the researchers have to focus on the personalization of the molecular and genomic level

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:

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:

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:

Anti-dementia drugs are not cost-effective and less than 20% of the patients respond to conventional drugs. Pharmacogenetics accounts for 60-90% variability in pharmacokinetics and pharmacodynamics. The genes involved in the pharmacogenomic response to drugs in Alzheimer’s disease (AD) fall into five major categories: (i) pathogenic genes; (ii) mechanistic genes; (iii) metabolic genes; (iv) transporter genes; and (v) pleiotropic genes.

Among pathogenic genes, APOE (19q13.2) is the most prevalent gene as a risk factor for AD, especially the APOE-4 allele.  Adjacent to the APOE gene is the TOMM40 locus.  A poly T repeat in an intronic polymorphism (rs10524523)(intron 6) in the TOMM40 gene, which encodes an outer mitochondrial membrane translocase involved in the transport of Aβ and other proteins into mitochondria, has been implicated in AD, and APOE-TOMM40 genotypes have been shown to modify disease risk and age at onset of symptoms.

Taking the APOE-TOMM40 region as reference locus, pharmacogenetics studies have revealed the following: (i) APOE-4 carriers are the worst responders and APOE-3 carriers are the best responders to conventional treatments. (ii) TOMM40 poly T-S/S carriers are the best responders, VL/VL and S/VL carriers are intermediate responders, and L/L carriers are the worst responders to treatment. (iii) 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 to treatment. (iv) 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. (v) In 100% of the cases, the L/L genotype is exclusively associated with the APOE-4/4 genotype, and this haplotype (4/4-L/L) is probably responsible for early onset of the disease, a faster cognitive decline, and a poor response to different treatments.

Biography:

Lucia Fernandez-Novoa is graduated in Medicine and Surgery at Santiago University Medical School, Santiago de Compostela. She subsequently obtained a post-doctoral fellowship at the Biochemistry and Biophysics Department, School of Medicine, University of Pennsylvania, USA, in where she researched the biochemistry of brain neurotransmission. She was granted a Fellowship by the Ministry of Education and Science, and carried out her research work at the Human Physiology Department of the Complutense University Medical School. She joined the EuroEspes group in 1995 and has been head of the Department of Molecular Genetics since 1998. To date she has written and participated in numerous research publications in the field of the genetics of neurodegerative disorders. Fernandez-Novoa has taken part in numerous basic and clinical research projects concerning principally Alzheimer’s disease. Her scientific work over the years has concentrated on the field of neurodegeneration, from both the genetic and physiopathologic points of view.

Abstract:

Histamine, is an ancestral biogenic amine present in many living tissues as a normal constituent of the body with multiple effects in several organs of mammals and invertebrates. Histamine exerts its effects on target cells through 4 different types of receptors: H1, H2, H3 and H4. Genetic variation in histamine receptors and histamine-synthesizing and -metabolizing enzymes is associated with differences in histamine metabolism, altered enzyme activities, and risk of disease.

To advance in the knowledge of histamine genomics, we analysed 3 genetic polymorphisms in the H1 receptor gene (rs901865), the H2 receptor gene (rs2067474) and the HNMT gene (rs11558538) in 195 patients, to establish a potential association between these polymorphisms and blood histamine levels, serum levels of Igs, PCR-us, TNF, and several ILs, as well as blood cells count.

The results showed an association with serum TNF levels and monocyte count for the HRH1 gene polymorphism. Subjects with genotype GG have increased serum TNF and monocyte count comparing with subjects with genotype GA+AA. There are more subjects with abnormal serum TNF levels and genotype GG, than with genotype GA+AA. The HRH2 gene polymorphism is associated with pathological PCR-us levels. Subjects with genotype GA presented abnormal values of serum PCR-us comparing to subjects with genotype GG. The HNMT polymorphism showed an association with serum IL8 levels. Individuals with genotype CC have increased levels of IL8 in comparison with individuals with genotype CT.

The results of this study indicate that HA-related polymorphisms participate in the modulation of the immune-inflammatory response.

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:

Obesity is a complex disease in which hereditary predisposition, alimentary imbalance, metabolism and the lack of physical exercise are potentially involved. Obesity represents a risk factor for a number of prevalent diseases associated with the metabolic effects of excess of adipose tissue, including coronary heart disease, hypertension, type 2 diabetes mellitus, and certain types of cancer. In the analyses carried out for the World Health Report 2002, approximately 58% of diabetes and 21% of ischemic heart disease globally were attributable to a BMI above 21 kg/m². The health consequences range from increased risk of premature death, to serious chronic conditions that reduce the overall quality of life. This genetic test evaluates the effects of individual genetic variations in response to diet, exercise and lifestyle, all of which can cause the genes to be "expressed" in a positive or negative way. Nutrigenetic testing helps to identify inherited obesity risk (ADRB2, ADRB3, ANKK1, CLOCK, FTO, LEP, LEPR, MC4R, NPY, PLIN, TAS1R2, TNF, UCP2), carbohydrate sensitivity (ADRB2, KCNJ11, SLC2A2, SLC30A8, TCFL2), saturated fat sensitivity (ADRB2, APOA2, APOA5, APOC3, FABP2, FTO, LPL, PPARG, TNF), diabetes risk (ADRB2, APOC3, FABP2, FTO, KCNJ11, SLC2A2, SLC30A8, TCFL2) and exercise response (ADRB2, APOC3, LIPC, TCFL2). The nutrigenomic card provides genetic results and additional information that the patient needs to know in order to make informed modifications to their diet and lifestyle to improve their health and wellbeing. This study present allelic and genotyping frequencies of 26 SNPs analysed in the spanish population to determine their relevance as informative nutrigenomic biomarkers

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:

M.C.Morris obtained her PhD in Biology and Health Sciences at the University of Montpellier, France in 1997 and completed her postdoctoral training at the Scripps Research Institute, La Jolla, USA. In 2000, she was hired by the CNRS and returned to the Centre of Research on Macromolecular Biochemistry in Montpellier, France. In 2005, she established her own research group and in 2010, she was promoted CNRS Research Director. In 2014 she moved to the Institute of Biomolecules Max Mousseron, where she is currently in charge of the “Biosensors and Inhibitors” group within the Department of Amino Acids, Heterocycles, Peptides and Proteins for Health.

She was awarded the CNRS Bronze Medal in 2006 and the “Scientist of the Future” award from Languedoc-Roussillon Region in 2009. She has published over 65 articles in peer-reviewed journals, 18 chapters in books and 8 patents, edited a volume on Fluorescent Biosensors (Elsevier Press) in 2013 and a special issue on Fluorescent Biosensors in Biotechnology Journal in 2014 (Total citations : 3874, h-factor: 27 (ISI Web of Science).

She is currently an editorial board member of Chem BioChem and Frontiers in Chemistry

Abstract:

Cyclin-dependant kinases (CDK/cyclins) constitute a class of heterodimeric kinases whose members play a central role in coordinating cell cycle progression and participate in a wide variety of essential biological processes including transcription, neuronal differentiation and metabolism (Lim and Kaldis 2013). These kinases are frequently hyperactivated in cancer cells and contribute to sustain unrefrained proliferation, thereby constituting established cancer biomarkers and attractive pharmacological targets for anticancer therapeutics (Asghar et al. 2015; Peyressatre et al. 2015). However, despite the oncological relevance of CDK/cyclin kinases, there are very few means of quantifying their relative activities to identify their hyperactivation.

In order to monitor the activity of these kinases in complex biological samples, such as cell extracts, tissue or tumour biopsies, and develop sensitive tools for diagnostic purposes, we have developed a toolbox of fluorescent biosensors through conjugation of environmentally-sensitive probes to synthetic modular polypeptides derived from kinase-specific substrates. These non-genetic biosensors offer a straightforward means of sensing subtle alterations in kinase activity in real time, in vitro and in living cells following facilited delivery by cell-penetrating peptides (Van TNN et al. 2014). These selective chemical probes allow to quantify differences between healthy and cancer cell lines, and in response to therapeutics. This technology is further suitable for probing and alterations in kinase activities in living cells, as well as in tissue samples and tumour biopsies. In particular, we have engineered  a CDK4/Cyclin D-specific biosensor which we have implemented to quantify CDK4/Cyclin D activity in healthy and pathological skin biopsies (Prével et al. 2016), and a CDK5/p25-specific biosensor which provides means of monitoring this kinase in neuronal cells and assessing its hyperactivation in neuronal disorders such as glioblastoma.

Taken together, these fluorescent biosensors constitute attractive tools for cancer diagnostics, for monitoring cancer progression and evaluating response to therapeutics, whilst also enabling development of sensitive assays for high throughput screening and offering promising perspectives for drug discovery.

Biography:

Mittra obtained his medical degree from University of Delhi and is a Fellow of the Royal College of Surgeons of England and holds a PhD degree from University of London. He did his post-doctoral training with Dr Renato Dulbecco, Nobel Laureate, at the Imperial Cancer Research Laboratories in London.  Professor Mittra is a multi-faceted personality. He is a breast cancer surgeon while at the same time being deeply involved in public health and basic research in cancer.  Professor Mittra’s current research interests lie in the area of biology of extracellular nucleic acids and their role in ageing, inflammation, degenerative disorders and initiation and metastatis of cancer

Abstract:

Several hundred billion to a trillion cells die in the adult human body daily, and a considerable amount of fragmented cell-free nucleic acids (cfNAs) from dying cells are released into the circulation.  Our research has shown that circulating cfNAs can freely enter into healthy cells, accumulate in their nuclei, trigger a DNA damage repair response (DDR) and integrate into host cell genomes by an unique mechanism (http://www.ias.ac.in/article/fulltext/jbsc/040/01/0091-0111;   http://f1000research.com/articles/4-924/v1). Similarly, at the tissue level, locally generated cfNAs from dead cells can be taken-up by healthy bystander cells to induce DDR that facilitates their integration into recipient cell genomes. Genomic integration of cfNAs leads to dsDNA breaks, inflammation, chromosomal instability, senescence and apoptosis of recipient cells. cfNAs from cancerous cells can cause oncogenic transformation of NIH3T3 cells which are tumourigenic in immune-deficient mice. These findings raise a new hypothesis of cancer metastasis which posits that metastasis arises from de novo oncogenic transformation of cells of target organs induced by cfNAs arising from apoptotic circulating tumour cells (CTCs). This hypothesis challenges the current dogma that metastasis are produced by growth of CTCs that are lodged in distant organs

Biography:

Heba Kalbouneh has completed her PhD at the age of 31 years from Heidelberg University, School of Medicine, Germany. She is an assistant professor at Department of Anatomy and Histology, School of Medicine, University of Jordan. She has published 6 papers since 2012 in reputed journals. She is a member of Alkaptonuria Research Association, Alkarak, Jordan.

Abstract:

Alkaptonuria (AKU) is a rare inborn metabolic disease characterized by accumulation of homogentisic acid (HGA). Excretion of HGA in urine causes darkening of urine and its deposition in connective tissues causes dark pigmentation (ochronosis), early degeneration of articular cartilage, weakening of the tendons, and subsequent rupture. In this case report, we present a rare case of a patient presented with unilateral spontaneous rupture of Achilles tendon due to AKU. The patient developed most of the orthopedic manifestations of the disease earlier than typical presentations. Alkaptonuria patients should avoid strenuous exercises and foot straining especially in patients developing early orthopedic manifestations

Biography:

Beheshti completed his PhD from Florida State University in physics and made a transition to cancer biology with his postdoctoral training. His diverse background gave him a unique systems biology approach in researching cancer biology. He is currently an Assistant Professor at Tufts Medical Center/Tufts University School of Medicine. He has many publications in reputed journals and has been serving as an editorial member for a couple of journals. Additionally, he is a member of a NIH/NCI systems biology steering committee. His expertise with –omics, aging, and lsystems biology has resulted in cutting edge research

Abstract:

Extensive epidemiological data have demonstrated an exponential rise in the incidence of non-Hodgkin lymphoma (NHL) that is associated with increasing age, starting from young adulthood. The molecular etiology of this remains largely unknown. We propose that there are predictable, age-dependent circulating microRNA (miRNA) signatures in the blood that influence NHL initiation and progression. To investigate this we utilized a novel murine model for spontaneous DLBCL initiation at two age groups: 2 and 15 months old. All spontaneous DLBCL mice will start to develop visible tumors starting at 15 months of age. Using systems biology techniques we determined a list of 10 circulating miRNAs present in the blood of DLBCL forming mice that are not present in the wild-type mice starting from 2 months of age. Additionally, this miRNA signature heavily impacts JUN and MYC ongeneic signaling. It was determined that there is a key miRNA signature circulating throughout a host prior to the formation of a tumor. This miRNA signature is further modulated by age and the formation of tumors. Leveraging a novel spontaneous DLBCL murine model, we were able to determine an age-based key functional circulating miRNA signature associated with NHL that occurs in the blood. This age based circulating miRNA signature can be used to predict NHL development at a young age before actual tumor formation. Furthermore, this can potentially be used as a simple biomarker at a young age to predict future lymphoma development and allow for advanced novel therapeutic strategies to prevent lymphomagenesis

Biography:

Elvis Twumasi Aboaye has completed his MPHIL in Medical Biochemistry from the  University of Ghana, Legon and a young Biomedical Scientist. He is the Research Officer at Life Medical Mission, a private Non-Governmental Organization championing the cause of preventive medicine as well as supply of laboratory reagents and equipements. More importantly, he is part of  a team experts at the Centre for Tropical Clinical Pharmacology and Therapeutics (CTCPT), School of Medicine and Dentistry, University of Ghana, involved in research

Abstract:

Biography:

Anatoly V Skalny has completed his PhD from All-Union Centre for Narcology, Moscow, Russia. He is the Vice-President of Trace Element Institute for UNESCO, the Chairman of Russian Society of Trace Elements in Medicine and the Vice-President of the Federation of European Societies on Trace Elements and Minerals (FESTEM). He has published more than 200 journal articles, abstracts and book chapters in English. He is a Member of Editorial Board of Journal of Trace Elements in Medicine and Biology.

Abstract:

Bioelementology approach was successfully used for diagnostic and treatment of trace element disorders and improvement of neuropsychiatric outcome in children with autism spectrum disorders (ASD). Hair and serum trace elements levels were assessed using inductively-coupled plasma mass spectrometry. A significant decrease in hair Cr, I and V was observed in children with ASD. Oppositely, hair Se levels significantly exceeded the control values. Surprisingly, hair toxic trace elements, namely As, Be and B, content was lower in children suffering from ASD. However, this finding is in agreement with the hypothesis of impaired metal detoxification in patients with ASD. Serum trace elements levels in children with ASD were more stable than those in hair. However, a significant decrease in serum levels of Ni, Cr and Se was detected. After considering the particular form of ASD it has been noted that different clinics is characterized by differentially altered trace elements levels. In particular, hair levels of Co, V and Ni were significantly lower than the control values in children with childhood autism, whereas Se content exceeded the control level. In contrast, children with atypical autism had only increased hair Se levels. Oppositely, serum levels of trace elements were more variable in children with atypical autism. In particular, children with atypical autism were characterized by significantly lower serum levels of Al, Ni, Cr, Mn and Se, whereas in patients with childhood autism only a decrease in hair Ni and Se was detected. It is notable, that children with atypical autism better respond to trace element supplementation therapy based on the results of trace element profiling and have improved neuropsychiatric status than those with childhood autism. Therefore, personalized treatment of ASD should be based on detailed analysis both hair and serum trace elements in every patient in order to obtain the better outcome.

Biography:

Salim Loudjedi has completed his Surgery studies from universities of Tlemcen and Oran, Algeria. He has practiced General Surgery at Tlemcen Hospital. He is specialized in Hepatobilliary Surgery and his Post doctoral thesis deal with EBM. He has published more than 10 papers.

Abstract:

Introduction: Personalized medicine is one of the most promising approaches in health care. It is a concept to treat each patient in an individualized way in terms of genetic and biological characteristics of the disease and on the patient's environment, lifestyle, etc. All these factors influence the disease progression and treatment efficacy. Moreover, improving care coordination between city and hospital, coaching the patient to hospital, can improve the return to work and normal social life after care. The evidence-based medicine (EBM) is defined as the conscientious, explicit and judicious use of the best available data for making decisions about the care of each patient, practical integration of each clinical expertise with the best available external clinical evidence from systematic research. This paradigm does not apply to all patients, given the personal characteristics of each. The combination of EBM with personalized medicine could be an added value especially in surgery.

Materials & Methods: Our study was based on management of two groups of 50 patients operated for gall bladder stones. The first group was supported according to the principles of personalized medicine and medicine based on evidence while the second group was supported only according to EBM. The parameters of EBM are best external evidence, individual clinical expertise and patients values & expectations. The adequacy between these parameters gives EBM. Our method combines EBM with patients’ values & expectations (personalized medicine). For example let us take two patients with gall stones bladder, according to EBM the treatment must be laparoscopic cholecystectomy for both patients. Now suppose that first patient refuses laparoscopy (cultural reason), so EBM cannot be applied at 100%. However the second patient takes all advantages of laparoscopy. In this case, to achieve the combination of EBM and personalized medicine, it is enough to convince the first patient about the advantages of laparoscopy. The same approach is carried out on the PICO criteria, essentially: Diagnosis with ultrasonography, laparoscopic cholecystectomy, research of lithiasis of common bile ducts, intraoperative cholangiography, postoperative complications, hospitalization and convalescence.

Results: Results obtained with the group of patients carried out both with personalized medicine and evidence based medicine were better compared with those obtained considering only EBM.

Discussion: The improved results obtained with the combination of EBM and personalized medicine is not a coincidence. Indeed this combination potentiates the effect of the results for two reasons: The medicine based on evidence brings the latest data from clinical research with given levels of evidence and the application of personalized medicine will add a big benefit in patient management.

Conclusion: The weighting between the three parameters of EBM makes it possible to apply EBM to all patients. In particular, "patient choice" in association with "personalized medicine" helped us to improve the results of our work. So the complementarity of the two paradigms of personalized medicine and EBM is inescapable for optimal care for gall bladder lithiasis patients. Personalized medicine is the missing link to the medicine based on evidence.

Biography:

Mr. Elvis Twumasi Aboaye has completed his MPHIL in Medical Biochemistry from the University of Ghana, Legon and a young Biomedical Scientist. He is the Research Officer at Life Medical Mission, a private Non-Governmental Organization championing the cause of preventive medicine as well as supply of laboratory reagents and equipements. More importantly, he is part of a team experts at the Centre for Tropical Clinical Pharmacology and Therapeutics (CTCPT), School of Medicine and Dentistry, University of Ghana, involved in research.

Abstract:

Purpose: Many African countries, still carries the burden of communicable and non-communicable diseases. Introduction of antiretroviral drugs in Ghana has improved HIV patient survival. Nevirapine a frontline medication according to National Guidelines for Ghana leads to hypersensitivity reaction in some patients. This study examines the clinical risk factors and specific
genotypic alleles that are associated with Nevirapine hypersensitivity reaction.
Methods:Antiretroviral naïve HIV patients who were initiating nevirapine-based HAART therapy were enrolled and clinically monitored in a nested case-control study over six months. Blood
samples were collected for aminotransferase assay and DNA genotyping for specific MDR1 and CYP2B6 markers.
Results: Eleven (15.7%) were identified as cases and 59 (84.3%) comparisons at the end of the 24 weeks monitoring out of the study population. Eight out of the observed cases were categorized as nevirapine hypersensitivity rash and 4 as hepatotoxicity. The concentration of AST was much higher in the cases (119.44±155.86) compared to the comparisons group (68.80±42.65), p = 0.056.
Concentration of ALT was also higher in the cases (136.44±165.99) compared to the control (56.72±33.02) p = 0.003. The CYP2B6 516 G > T, variant allele frequency observed in the study was 62 (44.3%). However, there was no variant allele detected for the three SNPs in ABCB1 gene
genotyped.
Conclusion: The observed NVP HSR outcome is a clear manifestation of the adverse reaction among HIV-1 infected Ghanaian population. The effect of this outcome although not statistically significant, contributes clinically to non-adherence and hospitalization of patients which seems to be a major factor to treatment failure in resource - limited countries.

Biography:

David Cheng has completed his PhD in Biomedical Physics from UCLA and a Dual Residency in Internal Medicine and Nuclear Medicine at Montefiore Medical Center, the hospital for the Albert Einstein College of Medicine in Bronx, NY. He has served as the Chief of Nuclear Medicine for more than 10 years at Yale-New Haven Hospital. He has joined Sidra Medical and Research Center in July 2014 as the Chief of Nuclear Medicine and Molecular Imaging to develop his own research

Abstract:

With continued advancement in personalized therapies in medicine, there is a need for improvements in diagnostic imaging. This talk will give a brief update in equipment (such as PET/MRI) and in biomarkers currently under investigation and being used in clinical practice

Biography:

Han Liang has received his PhD in Computational Biology from Princeton University and Postdoctoral training in Computational Genomics at the University of Chicago. He is an Associate Professor and the Deputy Chair of the Department of Bioinformatics and Computational Biology at the University of Texas MD Anderson Cancer Center. His group has focused on the integrative analysis of cancer genomic data and the development of related bioinformatics tools. He has been very productive in terms of publications in leading journals at MD Anderson. He is the PI for multiple large government grants including NIH/NCI R01. He is the Founder and Chair of The Cancer Genome Atlas (TCGA) Pan-Cancer Clinical/Predictor Working Group and Co-Leader of the International Cancer Genome Consortium (ICGC) Pan-Cancer Whole Genome Analysis Project

Abstract:

The Cancer Genome Atlas (TCGA) project represents the largest effort to systematically characterize the molecular profiles of human cancers. A central question for the cancer research community is how to use these genomic and proteomic data effectively to deliver the clinical benefits to cancer patients. In my talk, I will first introduce some useful bioinformatics tools we recently developed for effectively analyzing and visualizing TCGA data including TCPA for cancer proteomics and TANRIC for long non-coding RNAs. Then I will present systematic analyses of the power of diverse TCGA molecular data in predicting patient survival times and of the sex effects across cancer types. Finally, I will focus on the biomedical significance and clinical relevance of RNA editing in human cancer. Together, my talk will cover three key aspects of big cancer genomic data: User-friendly bioinformatics tools, more systematic analyses and discovery of novel molecular drivers

Biography:

M.C.Morris obtained her PhD in Biology and Health Sciences at the University of Montpellier, France in 1997 and completed her postdoctoral training at the Scripps Research Institute, La Jolla, USA. In 2000, she was hired by the CNRS and returned to the Centre of Research on Macromolecular Biochemistry in Montpellier, France. In 2005, she established her own research group and in 2010, she was promoted CNRS Research Director. In 2014 she moved to the Institute of Biomolecules Max Mousseron, where she is currently in charge of the “Biosensors and Inhibitors” group within the Department of Amino Acids, Heterocycles, Peptides and Proteins for Health.

She was awarded the CNRS Bronze Medal in 2006 and the “Scientist of the Future” award from Languedoc-Roussillon Region in 2009. She has published over 65 articles in peer-reviewed journals, 18 chapters in books and 8 patents, edited a volume on Fluorescent Biosensors (Elsevier Press) in 2013 and a special issue on Fluorescent Biosensors in Biotechnology Journal in 2014 (Total citations : 3874, h-factor: 27 (ISI Web of Science).She is currently an editorial board member of Chem BioChem and Frontiers in Chemistry

Abstract:

Cyclin-dependant kinases (CDK/cyclins) constitute a class of heterodimeric kinases whose members play a central role in coordinating cell cycle progression and participate in a wide variety of essential biological processes including transcription, neuronal differentiation and metabolism (Lim and Kaldis 2013). These kinases are frequently hyperactivated in cancer cells and contribute to sustain unrefrained proliferation, thereby constituting established cancer biomarkers and attractive pharmacological targets for anticancer therapeutics (Asghar et al. 2015; Peyressatre et al. 2015). However, despite the oncological relevance of CDK/cyclin kinases, there are very few means of quantifying their relative activities to identify their hyperactivation.

In order to monitor the activity of these kinases in complex biological samples, such as cell extracts, tissue or tumour biopsies, and develop sensitive tools for diagnostic purposes, we have developed a toolbox of fluorescent biosensors through conjugation of environmentally-sensitive probes to synthetic modular polypeptides derived from kinase-specific substrates. These non-genetic biosensors offer a straightforward means of sensing subtle alterations in kinase activity in real time, in vitro and in living cells following facilited delivery by cell-penetrating peptides (Van TNN et al. 2014). These selective chemical probes allow to quantify differences between healthy and cancer cell lines, and in response to therapeutics. This technology is further suitable for probing and alterations in kinase activities in living cells, as well as in tissue samples and tumour biopsies. In particular, we have engineered  a CDK4/Cyclin D-specific biosensor which we have implemented to quantify CDK4/Cyclin D activity in healthy and pathological skin biopsies (Prével et al. 2016), and a CDK5/p25-specific biosensor which provides means of monitoring this kinase in neuronal cells and assessing its hyperactivation in neuronal disorders such as glioblastoma.

Taken together, these fluorescent biosensors constitute attractive tools for cancer diagnostics, for monitoring cancer progression and evaluating response to therapeutics, whilst also enabling development of sensitive assays for high throughput screening and offering promising perspectives for drug discovery.

Biography:

Aurea Rosa Nunes Pereira Lima has completed her Bachelor’s degree in Pharmaceutical Sciences in 2004 at CESPU, Master’s degree in Medicine and Molecular Oncology in 2007 at Faculty of Medicine, University of Porto (FMUP), Doctorate degree in Medical Sciences in 2014 at Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto and also completed the Integrated Master Course in Medicine at ICBAS. She is currently a Professor and Researcher at Instituto de Investigação e Formação Avançada em Ciências e Tecnologias da Saúde, CESPU and has 15 papers in scientific journals.

Abstract:

During this century a new field has arisen – the personalized medicine! Medicine was always personalized but only in this century the integration of patient genome was considered as an important factor responsible for intra- and interpatient drug therapeutic outcome variability. One of the major contributors for this development is Pharmacogenomics (PGx), which represents the use of individual genetic data to predict therapeutic outcome and tailor the best medical intervention to each patient. During the past decade there has been a considerable research effort towards PGx. But, translating PGx knowledge into clinical practice still a major challenge, particularly in case of highly complex diseases such as rheumatoid arthritis (RA).

RA is a systemic autoimmune disease characterized by chronic inflammation of multiple peripheral joints for which the “gold standard” drug is methotrexate (MTX). Literature suggests that RA patients’ genetic profile may have a significant role in therapeutic outcome variability observed among patients, particularly genes encoding proteins involved in RA pathophysiology and those involved in MTX action mechanism. MTX action mechanism include: 1) MTX membrane transport pathways, a network of transporters which allow MTX influx and efflux, that belong to two major superfamilies’ - solute carriers (SLCs) and adenosine triphosphate (ATP)-binding cassette (ABCs) transporters; and, 2) MTX intracellular pathways, which include polyglutamation, folate, methionine, adenosine and de novo synthesis of purines and pyrimidines pathways. From 49 SNPs in genes encoding for proteins involved in MTX action mechanism studied in 233 RA patients, 14 genotypes could be predictors of MTX non-response, as follow SLC22A11 rs11231809 T carriers, ABCC1 rs246240 G carriers, ABCC1 rs3784864, TYMS rs34743033 3R3R, TYMS rs34743033+rs2853542 3RC3RG, TYMS rs34489327 6bp- carriers, MTHFR rs1801131 AA, MTHFR rs1801133 TT, MS rs1805087 AA, MTRR rs1801394 A carriers, ATIC rs2372536 C carriers, ATIC rs4673993 T carriers, ATIC rs7563206 T carriers and ATIC rs12995526 T carriers. In addition, 8 genotypes could be predictors of MTX-related toxicity, as follow SLC19A1 rs7499 G carriers, SLC46A1 rs2239907 GG, SLCO1B1 rs4149056 T carriers, ATIC rs2372536 G carriers, ATIC rs3821353 T carriers, ATIC rs7563206 CC, ATIC rs12995526 CC and ADORA2A rs2267076 T. Interestingly, from the 24 studied genes encoding for crucial proteins involved in MTX action mechanism, 12 genes demonstrated to be putative predictors of MTX therapeutic outcome. Therefore, genotyping patients according to these genetic markers may be helpful to identify which patients will not benefit from MTX treatment, highlighting the relevance of developing the field of personalized medicine. Nevertheless, and despite the potential of these findings, translation into clinical practice requires larger and multicentric studies in order to clear endorse the utility of the recently gather results

Biography:

Tariq Javed is presently working as an Associate Professor and Director Research at the Lahore Pharmacy College (LMDC), University of Health Sciences Lahore, Pakistan. He was the Assistant Professor (IPFP HEC) of Pharmaceutical Chemistry at Department of Pharmacy, Bahauddin Zakaryia University, Pakistan. He has also worked as a Production Pharmacist In-Charge, Tablet and Syrup Section, Jawa Pharmaceutical (Pvt.) Limited, Lahore. He has obtained his Master's degree in therapeutic potential of medicinal plants against hepatitis C virus

Abstract:

Hepatitis C virus infection is a liver associated health problem leads to hepatocellular carcinoma. So far, it has affected more than 170 million individual worldwide and 10 million people in Pakistan are living with Hepatitis C virus. Previously, HCV regimen was administration of peglated interferon (PEG-IFN) and ribavirin has limited efficacy, severe adverse effects and high cost. Recent advances in HCV management include the discovery of direct acting antiviral agents and personalized medicine based on viral genotypes or host proteins that promise to revolutionize HCV management. HCV genotype identification is most important for prediction of treatment response and to determine the duration of antiviral therapy. The disease preventive and health promoting approach based on herbal medicine are very successful in Asia and Africa. The present study was designed to search for phytochemicals from traditional medicinal plants against Hepatitis C Virus (HCV). Therefore, an in vitro bioassay was developed for HCV into Huh-7 cell line. Viral titer was analyzed through Quantitative Real Time PCR and potential phytochemicals were screened against HCV-NS3 protease and their synergistic effect was analyzed with interferon. These approaches are specific to HCV genotype 1a and 3a and likely to have more efficacy and less side effects.

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:

A.R. Thierry is Director of Research at the INSERM in the Institute of Research of Cancerology of Montpellier, France. His research interest focuses on the study of the diagnostic capacity of circulating DNA and the development of methods towards supporting personalised medicine. A.R. Thierry has coordinated a prospective blinded multicentric studies showing the first clinical validation and demonstration of clinical utility of the plasma DNA analysis in oncology, by detecting point mutations in KRAS and BRAF from colorectal patients. He is one of the world leaders in the clinical application of the analysis of circulating DNA and now he is directing various studies on prognosis, cancer patient follow up and cancer screening. He is the principal founder of DiaDx, a Biotech company devoted to liquid biopsy solutions in oncology

Abstract:

Circulating cell-free DNA (cfDNA) analysis constitutes a hopeful approach to provide a non-invasive tumor molecular test for cancer patients from a simple blood test. Based upon basic research on the origin and structure of cfDNA, new information on circulating cell-free DNA (cfDNA) structure and specific determination of cfDNA fragmentation and size, we revisited Q-PCR based method and recently developed the Allele Specific-Q-PCR based-method with blocker (termed as Intplex) which is the first multiplexed test for cfDNA. The Intplex test can be adapted to all mutations, genes or cancers and enables rapid, highly sensitive, cost effective and repetitive analysis. It offers the opportunity in detecting quantitatively and dynamically mutation and could constitute a non-invasive attractive tool potentially allowing diagnosis, prognosis, theranostics, therapeutic monitoring and follow-up of cancer patients expanding the scope of personalized cancer medicine.

We carried out two clinical studies in metastatic colorectal cancer patients (i) the clinical real-time evaluation of circulating tumor DNA (ctDNA) analysis for detecting point mutations in comparison with tumor tissue analysis before initiation of anti-EGFR therapy and (ii), the study of the emergence of associated resistance mutation in refractory patients under treatment.

(i) We realized a real-time blinded prospective multicentric clinical study on 140 patients comparing KRAS (exon 2,3 and 4), NRAS (exon é and 3) and BRAF V600E mutations determination by plasma and tissue analysis carried out in the conditions of standard management care. On 121 patients where both analysis were made, 43% were found mutant by tumor tissue analysis while 57% were found KRAS mutant by ctDNA analysis. 7.2% of patients were found BRAF mutant by tumor tissue while 14.4% were determined mutant by ctDNA analysis. 13% of plasma samples carried multiple KRAS point mutations and 4% of plasma samples exhibited at least one KRAS point mutation combined to the presence of BRAFV600E point mutation. Median data turnaround time was 16 [3-273] days for tumor tissue while it was 2 [0.5-10] days for ctDNA analysis. Extensive analysis of discordant samples revealed that use of biopsy, delay between tumor tissue specimen collection and blood draw, and absence of primary tumor at time of blood draw are the main clinical and technical factors potentially affecting concordance. In addition, most of the samples scored mutant by plasma while being tested WT by tumor tissue analysis seem clinically relevant in respect to the anti-EGFR resistance (RAS status) and to the overall survival (BRAF status). By way of observed higher level of mutation frequencies, plasma analysis appears more accurate than tissue analysis consistent with the intra-tumor or inter-tumor heterogeneity and the clonal evolution dynamics. Lastly, we present the first distribution profile of the RAS and BRAF hotspot mutations in non-stratified mCRC patients. Altogether, this is the first initial report stringently demonstrating the clinical utility of using ctDNA analysis for testing the actionable hotspot mutations in a large cohort of mCRC patients.

 (ii) In the other blinded clinical study, we retrospectively analyzed RAS (KRAS and NRAS) and BRAF mutations in serial plasma samples from 42 refractory mCRC patients to Folfox + cetuximab or dasatinib. 98% of the plasma were found mutant before or during treatment. 50% of KRAS mutant samples were missed by tumor tissue analysis before treatment. 4.8% of patients were found BRAF mutant by tumor tissue analysis while 7% were found mutant by ctDNA analysis. Longitudinal plasma analysis shows that 80% of initially WT patients acquire at least one RAS or BRAF mutation during treatment and that 38% of initially mutant patients acquire at least one newly KRAS or BRAF point mutation during treatment. CtDNA analysis allows tracking acquired resistance by studying the real-time clonal evolution of the tumor Patients may harbor mutations at very low frequency on ctDNA down to 0.01% before initiation or during treatment revealing the need of a high sensitive technique to detect mutant subclones. Altogether, our results indicate that plasma analysis could advantageously replace tumor tissue analysis and enables longitudinal examination of tumor molecular profiling.