יום עיון שנתי Psychiatric Genetics

Transcription

1 יום עיון שנתי Psychiatric Genetics יום רביעי, 14 נובמבר 2018, המרכז האקדמי יפו תל אביב תכנית היום נושא ההרצאה מרצים שעות 08:15-08:45 התכנסות Transdiagnostic Genomics for Precision Medicine in Psychiatry Genetics of autism spectrum and attention deficit hyperactivity disorders ברכות-פרופ יואב כהן 08:45-09:00 יו ר האיגוד לפסיכיאטריה ביולוגית Prof. Stephan Ripke 09:00-09:50 Prof. Andres Borglum 09:50-10:40 הפסקת קפה ומאפה 10:40-11:15 A genomic approach to Epilepsy Prof. Heather Mefford 11:15-12:05 Non invasive detection of brain cell death using methylation patterns of circulating DNA Ethical and Moral Dilemmas in Huntington families Essential genes linked to neurodevelopmental disorders ארוחת צהריים 12:05-13:00 Prof Yuval Dor 13:00-13:45 Alona Gad. MD 13:45-14:30 Prof Sagiv Shifman 14:30-15:15 ההרשמה והתשלום באתר האיגוד )תפריט מצד ימין -( מרכזים: פרופ יואב כהן, ד"ר אלונה גד, ההשתתפות מותנית ברישום מראש

2 Stephan Ripke, MD, Phd Professor for Statistical Genetics Ph.D. with over 10 years research experience in statistical genetics First author of multiple seminal publications in Nature and Nature Genetics Leader of the statistical analysis group of the Psychiatric Genomics Consortium (PGC) for over 6 years Winner of multiple awards and grants in the medical research field Medical Doctor with 3 years of clinical training Strong computational and statistical skills combined with extensive experience providing service analyses Anders Borglum, MD PhD is Professor of Medical Genetics and Director of Center for Genomics and Personalized Medicine at Aarhus University and Central Region Denmark. His research focuses on identification and functional characterization of genes involved in psychiatric disorders with the overall aim to increase the etiological and pathophysiological understanding and provide a basis for improved diagnosis, treatment and prevention of the disabling disorders investigated. The focus of his current research is analysis of genomics data from a Danish nationwide population based sample including more than 80,000 individuals of whom >50,0000 suffer from major mental disorders such as ADHD, autism spectrum disorder (ASD), schizophrenia, bipolar disorder, and depression, conducted as part of the ipsych program (Lundbeck Foundation Initiative for Integrative Psychiatric Research) in collaboration with international partners, including the Psychiatric Genomics Consortium and the Broad Institute (Boston). This nationwide cohort includes all individuals in Denmark diagnosed with the aforementioned disorders who were born between 1981 and 2005, including around 18,000 with

3 ADHD and 16,000 with ASD. All 80k samples have been genotyped for GWAS and more than 20,000 have been whole exome sequenced, including 3,500 with ADHD and 5,000 with ASD. ipsych has recently received financial support for extension of the research program and expansion of the cohort to almost the double, and new waves of genotyping and sequencing have been initiated. The genetic data is cross-linked to the comprehensive Danish register system comprising a wealth of longitudinal data at a total population level, including diagnoses given in psychiatric in- and outpatient clinics Heather Mefford MD,PhD is an Associate Professor of Pediatrics at the University of Washington in the Division of Genetic Medicine and attending physician at Seattle Children's Hospital in the Genetic Medicine Clinic. Dr. Mefford s research laboratory is devoted to the discovery of novel genetic and genomic causes of pediatric disease. A major focus of their current work is to identify causes of pediatric epilepsy by employing state-ofthe-art technologies including whole exome sequencing, targeted gene panel sequencing and custom array comparative genomic hybridization (acgh). The Mefford lab has discovered numerous new epilepsy genes and copy number variants. Dr. Mefford has also been involved in the discovery and characterization of several new genomic disorders, including deletions of chromosomes 1q21, 15q13 and 17q12, each of which cause a range of clinical features. She is continuing to investigate individuals with these conditions to better understand the variable outcomes. Dr. Meffords clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with severe epilepsies and neurocognitive defects of unknown etiology.

4 YUVAL DOR, PhD, is a professor at the Department of Developmental Biology and Cancer Research, The Hebrew University- Hadassah Medical School. Yuval has earned his PhD in molecular vascular biology at the Hebrew University in He then moved to Harvard University and trained with Doug Melton until 2004, when he returned to Israel to establish his independent group at the Hebrew University. His lab is studying tissue dynamics during postnatal life: the molecular mechanisms by which cell regenerate and die. Much of his work focuses on pancreatic beta cell biology in the context of diabetes, as well as on pancreatic cancer. In recent years he has developed a novel method to study cell death in humans, using methylation signatures of DNA circulating in blood after being released from dying cells. Using this method he was able to monitor in real time cell death in multiple pathologies, opening the way to both early diagnosis and monitoring of disease progression and response to therapy. ALONA GAD, MD is board certified in both Psychiatry and Medical genetics. She graduated medical school at the Technion, Israel and completed her psychiatric residency at Geha mental hospital. Dr. Gad went on to study for a second fellowship in Medical Genetics at the University of Washington in Seattle, where she trained with Prof. Wendy Raskind and Prof. Tom Bird and specialized in neurogenetic disorders. Working at the Tel Aviv Sourasky Medical Center, Dr. Gad established and developed a multidisciplinary team approach to treat neurogenetic disorders, especially Huntington chorea disorder. In 2015, she moved to Ramat Chen, and worked as a senior psychiatrist. Her clinical and research focus is Neuropsychiatric disorders. Dr. Gad is currently working at her own private practice

5 Sagiv Shifman, Phd, is an Associate Professor in the Department of Genetics at the Hebrew University of Jerusalem, Israel. He received his Ph.D. (2005) from the Hebrew University of Jerusalem, Israel, where he was studying the genetics basis of schizophrenia. He then did his postdoctoral studies at the Wellcome Trust Centre for Human Genetics, University of Oxford, studying the genetic basis of anxiety and depression. His current main research focus is the connection between genes, the brain and autism. In 2013, he was awarded the prestigious Krill Prize from the Wolf Foundation for excellence in scientific research.