Biography:

Constantin Polychronakos specialized in Pediatric Endocrinology in Canada after medical studies at Aristotelian University in Greece, and fi nished his Post-doctoral research training at McGill University in Montreal, where he is now Full Professor in the Department of Paediatrics with cross-appointment in Human Genetics. He is credited with the discovery of the effect of the INS locus in the thymus in type 1 diabetes, with two of the fi rst GWAS for type 1 and type 2 diabetes and one of the fi rst uses of exon capture combined with NGS to elucidate the cause of a rare monogenic form of diabetes

Abstract:

Background: Type 1 diabetes (T1D) is due to the autoimmune destruction of the pancreatic -cells. Autoantigen specifi city is determined by the T-cell receptors (TCRs) of autoreactive lymphocytes but their characteristics are poorly understood. Nextgeneration sequencing now off ers methodological possibilities for exploring the vast diversity of the somatically rearranged TCRs for possibilities of personalized diagnosis and intervention. Objective: To defi ne the TCRs reactive to whole proinsulin, the most important T1D autoantigen. Methods: We examined T-cells from the peripheral blood of nine children with T1D and two normal controls, by proliferated in vitro aft er 12 days of activation with proinsulin and isolated by CFSE dye-dilution fl ow-sorting. TCRs were amplifi ed from whole RNA by 5’RACE and amplicons sequenced on the Illumina miSeq with a 250 x 2 protocol. Beta-chain reads were analysed by a paired-end modifi cation of the standard algorithm. Results: Response to proinsulin was highly polyclonal in the T1D patients but much fewer clones were seen in the two controls, where 29% and 80% of all proliferating clones had the same TCR (p=0.018, rank test). Interestingly, 562 out of the 5,446 clones that showed at least 20-fold expansion were “public”, i.e. exactly the same in diff erent subjects. Th ese clones tended to have a higher ratio of expansion (mean 123 vs. 103, p=0.04. Conclusion: TCR clonality of proinsulin specifi cities appears to distinguish cases from controls and, if confi rmed, may be an important predictor of diabetes, and immune-progress biomarker. Defi nition of the main TCR clones in early pre-diabetes may provide opportunities for antigen-specifi c immunosuppression

Biography:

María Ángeles Pajares completed her PhD from the Universidad Complutense de Madrid (Spain) in 1986, and her Post-doctoral studies from the Harvard Medical School (Boston, USA) in 1989. She is a Senior Research Scientist from the CSIC since 2006, where her own group works in the structure/function relationships that govern methionine metabolism in health and disease. She has authored more than 60 original papers in reputed international journals. She serves as referee for a large number of journals and several grant agencies and is now also serving as an Editorial Board Member for the World Journal of Biological Chemistry

Abstract:

The methionine cycle produces S-adenosylmethionine (AdoMet) the main methyl donor for cellular transmethylations, including several epigenetic modifi cations. Alterations in this pathway and specifi cally in the AdoMet synthesis by methionine adenosyltransferases (MATs) have been reported in a large variety of diseases, although most studies have been performed in liver. Th e enzymes involved, excluding methyltransferases, are oligomers that were classically consider cytoplasmic. Th us, the AdoMet synthesized in the cytoplasm was expected to be transported to other compartments as required, a hypothesis further sustained by identifi cation of an AdoMet mitochondrial transporter. However, in the last decade several reports have shown that this is not the case for the cell nucleus, where most of these enzymes have been identifi ed in very low quantities. Work of my laboratory has recently provided evidences showing nuclear accumulation of several proteins of the methionine cycle in two models of acute liver injury. Moreover, we demonstrated that the nucleocytoplasmic distribution is governed by the ratio between glutathione species (GSH/GSSG). In fact, the oxidative stress induced by D-galactosamine or acetaminophen produces opposite eff ects on MAT I/III isoenzymes according to the subcellular compartment examined. Th is opposite regulation leads to decreased AdoMet production in the cytoplasm, whereas the nuclear levels of active MAT I increase, as well as certain epigenetic methylations. Prevention by N-acetylcysteine administration did not avoid all the drug-induced changes. Hence, we propose that alterations in the subcellular localization pattern of several enzymes of this cycle show a potential as biomarkers of liver disease

Biography:

David Cheng completed a PhD in Biomedical Physics from UCLA and a dual residency in Internal Medicine and Nuclear Medicine at Montefi ore 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. Th is talk will give a brief update in equipment (such as PET/MRI) and in biomarkers currently under investigation and being used in clinical practice. It is an exciting time to integrate and translate scientifi c knowledge into clinical practice Understand basic principles in order to diff erentiate promising eff orts from confusing fl awed data New technology and radiotracers need time for validation

Biography:

Sadhana Shrivastava completed her PhD from Jiwaji University and Post-doctoral studies from the same University. She has published more than 40 papers in reputed journals and books. She has been awarded many national fellowships. She has presented papers in international conferences

Abstract:

Kaempferol is a natural fl avonol, a type of fl avonoid that has been isolated from broccoli, grapefruit, cabbage, tomato, grapes and apples. Acryl amide (AA) is an industrial chemical with neurotoxic, carcinogenic eff ects in humans and has been known as an occupational hazard for decades. However, in recent years, AA has been found to form in fried and baked starchy foods like potato chips, French fries etc during cooking. Th e aim of the present study was to evaluate the therapeutic effi cacy of Kaempferol against AA induced toxicity in rats. AA was administered at the dose of 19.13 mg/Kg for 28 days to albino rats followed by therapy with 20 mg/ Kg dose of Kaempferol. Th e various toxicity symptoms were observed which include signifi cant reduction of body weight, hair loss, hind-limb splaying, dragging of back legs and irritation on skin. Th ere was signifi cant elevation in the level of AST, ALT and ALPase with reduction in levels of hemoglobin and blood ALAD and ALAS in brain aft er AA exposure. Activities of acetyl cholisterase, GST, GR and GPx were also declined in AA treated groups as compared to control group. Aft er AA intoxication, activities of drug metabolizing enzymes (AH, AND, CYT P-450) were depleted with increase in G-6-PDH, microsomal lipid peroxidation and also induced DNA damage. Histo-pathological observations also supported biochemical studies. Kaempferol has a therapeutic potential for the protection of AA induced toxicity to prevent harmful eff ects

Biography:

Jean Gabert is a Biochemist and Molecular Biologist, who has spent 10 years in the Cancer Centre in Marseilles (France) as Assistant Professor in Haematology after getting his PhD in Immunology. From 1999 to till date, he has been working as a Professor of Biochemistry and Molecular Biology, Head of the department at the University Hospital in Marseilles. His work has always been in the transfer research and availability for patients of new biological tests allowing improving health care. He has been the coordinator of a very successful European network under the Europe against Cancer program (SANCO Commission). He is currently the Head of the molecular platform for cancer in the PACA West region. He has 5 patents and greater than 75 peer review international publications in reputed journals. He recently obtained honour of Executive Master in Health from Science Po Paris (2011).

Abstract:

A new mutated cancer gene (CALR) has been discovered in December 2013 aff ecting mainly primary myelo-proliferative syndromes (MPS). Th e patients with mutated CALR have a lower risk of thrombosis and longer overall survival than patients with mutated jak2 gene and the clinicians continue to face challenges during diagnosis of un-mutated MPS. CALR mutations are present in 70 to 80% of un-mutated Jak2 MPS. Th e mutations are located on exon 9 of the gene with a loss of KDEL sequence (signal sequence for endoplasmic reticulum) and loss of calcium biding sites with a new basic (instead of acidic) C terminal region. We will present our data: although the fi rst papers were based on new generation sequencing, we wanted to set up a prospective screening based on High Resolution Melting (HRM) followed by Sanger sequencing using the same pair of primers to speed up the process. We tested 180 samples including for suspicion of Essential Th rombocytemia (ET) and primary myelo-fi brosis. We found 21 CALR mutations including one deletion which has not been reported so far. Until 12 years ago the diagnosis of MPS patients was only on elimination; Jak2 and MPL mutations, we can today, with CALR mutations in addition, fi nd one mutated gene for 90% of the MPS patients which improves the medical care of such patients. Th e personalized therapeutic approach is under process

Biography:

Vincent S Gallicchio is Professor of Biological Sciences, Public Health and Microbiology at Clemson University. He is the Vice President of the Trace Element Research Centers operating under UNESCO and the immediate Past-President of the International Federation of Biomedical Laboratory Science. He has authored more than 200 peer-reviewed scientifi c articles, book chapters and textbooks. He is the Inventor on eleven US and one international patent focused on drug delivery. He has received more than $22 million in research funding. In 2003 he was presented to her majesty Queen Elizabeth of England for his efforts promoting higher education opportunities for British students

Abstract:

Lithium (Li) salts have been widely used in psychiatry as mood stabilizing agents for 60 years. Li found in variable amounts in foods, especially grains, vegetables, and in some areas, the drinking water provides a signifi cant source of the element. Th erefore, dietary intake in humans depends on location, type of foods consumed, and fl uid intake. Traces of Li have been detected in human organs and tissues, leading speculation that the element was responsible for specifi c functions in the human body. It was not until the 20th century that studies performed in the 1970’s and 1990’s, primarily in rats and goats, maintained on Li-defi cient diets demonstrated higher mortality, altered reproductive and behavioral abnormalities. Such defi ciencies have not been detected in humans; however, studies performed on populations living in areas with low Li levels in water supplies have been associated with higher rates of suicides, homicides, and the arrests rate for drug abuse and other crimes. Li appears to play a signifi cant role in early fetal development as evidenced by high Li levels during the early gestational period. Biochemically, the mechanism of Li action involves multi- factor and interconnected pathways with enzymes, hormones, vitamins, and growth and transforming factors. Th is body of evidence now appears suffi cient to label Li as an essential element with the recommended RDA for a 70 kg adult of 1000 mg/day. Of extreme importance for the future is the growing body of evidence indicating Li can be used eff ectively for the treatment of acute brain injuries, e.g., ischemia and chronic neurodegenerative diseases such as Alzheimer’s disease, Parkinson’s disease, Tauopathies, and Huntington’s disease. Th is conclusion is based upon evidence showing Li as important in neurogenesis as well as protecting neurons from neurotoxicity. Li infl uences stem cells, both neuronal and marrow derived, thus, the additional therapeutic implications for this element in clinical medicine to treat disorders associated with the faulty production of blood and nerve cells or as a tool to enhance blood stem cell mobilization for transplantation

Biography:

Manuel Perez Alonso has a degree in Biology and PhD in Molecular Genetics. He is currently working as a Professor in Genetics at the University of Valencia. He participated in fi ve international genome sequencing consortia (as Principal Investigator) and in a number of basic research projects. He is Promoter and Founding partner in six biomedical companies: Valentia Bio-Pharma, The Institute of Genomic Medicine, Gen A Gen, Genera Biotech, Medi-Gene Press, all of them located at the University of Valencia Science Park. His research is now focused on the development of genomic tools for genetic testing. He also contributes to biopharmaceutical research through the study of the pathways leading to rare genetic disease. He is President of the Valencia Bio-Region (BIOVAL) and President of the Spanish Association of Entrepreneurs in Science

Abstract:

Detecting gene mutations related to rare disease pathogenesis is a major need in patient healthcare. More than 3,000 rare diseases are known to be caused by mutations in the corresponding genes. Th is kind knowledge can be used for medical genetics and medical genomics, i.e., thousands of diff erent gene tests may be developed internally in reference laboratories. Despite the obvious medical interest of this kind of genetic tests, there are only a few global labs off ering more than 1,000 diff erent gene tests in their portfolios. In this talk the professional pathway leading to the creation of the Institute of Genomic Medicine as well as the fast evolution of this reference laboratory will be described. Aft er fi nding this genetics reference laboratory, in 2009, the Institute has developed into one of the main Reference Laboratories for the Genetic Testing of Rare Genetic Diseases, providing more than 6,000 gene tests per year. Only six years aft er establishment, the portfolio of available molecular tests from the Institute includes more than 1,300 genes corresponding to more than 1,200 rare genetic diseases. Th is list grows every week on demand, i.e., we accept requests from clinics or hospitals in Europe, America or Asia for new tests to be developed in our labs. Now the company includes a service for exome sequencing by Next Generation Sequencing. Th e key points for our development that can be summarized in (1) the creation of interdisciplinary teams between biologists, bio-informaticians and IT experts; (2) international collaboration; (3) active collaboration with the academia, small biotech companies worldwide and business people; (4) a strong commitment of the founders of the company on the idea that research has to benefi t the Society; and (5) strong commitment within our team with business ethics will be described

Biography:

Lars Von Olleschik-Elbheim 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 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 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:

In the mid-20th century the Soviet scientists Nicolai Lazarevand Israel I. Brekhman came up with the term adaptogen. Th e term refers to a group of secondary metabolites, based on plant extracts that can help the body adapt to stress, regardless of the source: heat, cold, exertion, trauma, sleep deprivation, toxic exposure, radiation, infection, or psychological duress. By defi nition, an adaptogen causes no side eff ects, treats a wide variety of illnesses, and helps return an organism back toward balance (homeostasis) no matter in what manner it has moved out of balance. Intensive research has been made on this topic in Russia and Asia, fi rst of all in the area of sports and military. Th ere is strong evidence that there is a positive correlation between frequent adaptogen extracts uptake, enhanced physical endurance and enhanced mental capacity. Th e talk will give an overview on the most imporant adaptogenic plants, the secondary plant metabolites involved and the current use of adaptogenic extracts on various health conditions. It shall also discuss the adaptogenic eff ects on bioliogical ageing. In order to estimate how much an individual will benefi t from the use of adaptogens, the measurement of cortisol levels has become like a biomarker. Recently an easy to use home test has been developed in Canada. It estimates how much an individual might benefi t from the use of adaptogens. Th is test is also dedicated to monitor long term eff ects of adaptogen intake on the individual stress level and thus may soon become part of the diagnostics toolbox for personalized medicine

Biography:

Anatoly V Skalny has completed his PhD at the age of 28 years from All-Union Centre for Narcology, Moscow, USSR. He is a vice-president of Trace Element Institute for UNESCO, the chairman of Russian Society of Trace Elements in Medicine, a member of advisory board of Federation of European Societies on Trace Elements and Minerals (FESTEM). He has published more than 200 journal articles, abstracts and book chapters in English. Prof. Skalny is a member of editorial board of Journal of Trace Elements in Medicine and Biology, the leading journal in the fi eld of trace elements science.

Abstract:

Chemical elements are the structural basis of all living organisms. At the same time, chemical elements and their organic and inorganic compounds exist in the human organism not as inert and independent units. Th erefore, a term “bioelement” was proposed earlier. Bioelement is not a single chemical element (atom) inside a large molecule, but a temporarily formed biocomplex where the element is bound to an organic molecule with a specifi c biological function. In particular, certain chemical element is a physicochemical unit whereas bioelement is a precursor of biological unit. Consequently, clinical medicine aims at analysis of bioelements rather than chemical elements alone. Taking into account the fact that bioelementology is an integrative science that includes the knowledge on bioorganic chemistry, bioinorganic chemistry, biochemistry and biophysics, molecular biology, medicine and other parts of life sciences, analysis of bioelemental status of the human organism may provide more essential information on the condition of the human organism than chemical analysis of metals and other compounds in human biosamples alone. Finally, this results in the formation of a complex metabolic profi le of the organism. Th e availability and the use of such information may help the physician to successfully correct the disturbed metabolic pathways in the human organism and fi nally increase the effi ciency of treatment. Th erefore, it can be proposed that bioelementology is not just a tool in a large arsenal of the physician but a basis for personalized medicine

Biography:

Abstract: