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
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November 10 : Rare Diseases Symposium |
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9:00 – 9:05 |
Opening Remarks |
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Fumihiko Matsuda (Kyoto University, Japan) |
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9:05 – 9:10 |
Welcome Remarks |
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Nagahiro Minato (Provost, Vice President, Kyoto University, Japan) |
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Session 1 |
Chairperson: Fumihiko Matsuda & Ivo Gut |
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9:10 – 9:55 |
The Exome and Beyond – Identifying Causes of Rare Genetic Diseases |
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Jacek Majewski (McGill University, Canada) |
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9:55 – 10:40 |
The 100,000 Genomes Project Transforming Healthcare |
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Mark J. Caulfield (Queen Mary University of London, UK) |
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10:40 – 11:00 |
Coffee break |
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11:00 – 11:45 |
Rare Variants in Rare and Intractable Diseases |
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Naomichi Matsumoto (Yokohama City University, Japan) |
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11:45 – 12:30 |
Genomics of Complex Cerebral Small Vessel Disease |
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Stéphanie Debette (University of Bordeaux, France) |
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12:30 – 13:30 |
Lunch |
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Session 2 |
Chairperson: Mark Lathrop & Jacek Majewski |
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13:30 – 14:15 |
Genomics of Rare Cerebral Small Vessel Disease |
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Elisabeth Tournier-Lasserve (Paris Diderot University, France) |
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14:15 – 15:00 |
Uncovering the Metabolic Pleiotropy of Rare Disorders: The Example of Fragile X Syndrome |
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Marc-Emmanuel Dumas (Imperial College London, UK) |
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15:00 – 15:20 |
Coffee break |
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15:20 – 16:05 |
Data Integration for Rare Diseases Facilitated by the RD-Connect Genome Phenome Platform |
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Ivo Gut (Centro Nacional de Análisis Genómico, Spain) |
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16:05 – 16:50 |
Perspectives of Large-scale ALS Patient Registry Study |
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Gen Sobue (Nagoya University, Japan) |
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Session 3 |
Short talks |
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16:50 – 17:10 |
Collaborative Research on Analytics Platform for Rare Disease |
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Atsushi Takano (IBM Japan, Japan) |
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17:10 – 17:30 |
Application of AI technology to Identify Unknown Causal Genes of Mendelian Disorders via WGS |
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Shuji Kawaguchi (Kyoto University, Japan) |
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17:30 – 17:50 |
Development of Muscle Pathology Diagnosis Support System by Deep Learning |
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Mariko Okubo (National Center of Neurology and Psychiatry, Japan) |
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17:50 – |
Closing Remarks |
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Mark Lathrop (McGill University, Canada) |
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