Symposium 2017

The 5th Kyoto Course on Bioinformatics for Genomic Medicine
International Symposium on Genomic Medicine – Genomics of Rare and Intractable Diseases
November 10th, 2017 Confirmed Speakers and Talk Titles

November 10 : Rare Diseases Symposium

9:00 – 9:05 Opening Remarks

Fumihiko Matsuda (Kyoto University, Japan)

9:05 – 9:10 Welcome Remarks

Nagahiro Minato (Provost, Vice President, Kyoto University, Japan)

Session 1 Chairperson: Fumihiko Matsuda & Ivo Gut

9:10 – 9:55 The Exome and Beyond – Identifying Causes of Rare Genetic Diseases

Jacek Majewski (McGill University, Canada)

9:55 – 10:40 The 100,000 Genomes Project Transforming Healthcare

Mark J. Caulfield (Queen Mary University of London, UK)

10:40 – 11:00 Coffee break

11:00 – 11:45 Rare Variants in Rare and Intractable Diseases

Naomichi Matsumoto (Yokohama City University, Japan)

11:45 – 12:30 Genomics of Complex Cerebral Small Vessel Disease

Stéphanie Debette (University of Bordeaux, France)

12:30 – 13:30 Lunch

Session 2 Chairperson: Mark Lathrop & Jacek Majewski

13:30 – 14:15 Genomics of Rare Cerebral Small Vessel Disease

Elisabeth Tournier-Lasserve (Paris Diderot University, France)

14:15 – 15:00 Uncovering the Metabolic Pleiotropy of Rare Disorders: The Example of Fragile X Syndrome

Marc-Emmanuel Dumas (Imperial College London, UK)

15:00 – 15:20 Coffee break

15:20 – 16:05 Data Integration for Rare Diseases Facilitated by the RD-Connect Genome Phenome Platform

Ivo Gut (Centro Nacional de Análisis Genómico, Spain)

16:05 – 16:50 Perspectives of Large-scale ALS Patient Registry Study

Gen Sobue (Nagoya University, Japan)

Session 3 Short talks

16:50 – 17:10 Collaborative Research on Analytics Platform for Rare Disease

Atsushi Takano (IBM Japan, Japan)

17:10 – 17:30 Application of AI technology to Identify Unknown Causal Genes of Mendelian Disorders via WGS

Shuji Kawaguchi (Kyoto University, Japan)

17:30 – 17:50 Development of Muscle Pathology Diagnosis Support System by Deep Learning

Mariko Okubo (National Center of Neurology and Psychiatry, Japan)

17:50 – Closing Remarks

Mark Lathrop (McGill University, Canada)