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Research Seminar 27 Mar 2017


Research Seminar

Centre for Genomic Sciences

Identifying Causal Genes Driving
Autoimmune Disease Risk

Dr Chris Cotsapas

Associate Professor of Neurology; Associate Professor of Genetics
Yale School of Medicine

27 March 2017 (Mon)
11:00 am – 12:30 pm

Seminar Room 4, 4/F
The Hong Kong Jockey Club Building for Interdisciplinary Research
5 Sassoon Road, Pokfulam, Hong Kong


Genetic mapping studies have identified thousands of associations to common complex diseases. The majority of these signals appear to localize to gene regulatory, rather than gene coding regions. Both fine mapping and interpreting regulatory variation remain challenging, making the identification of pathogenic genes difficult. We have developed novel methods to identify causal molecular traits and distinguish them from bystander traits, and for identifying specific regulatory regions driving disease risk. We have applied these to 300 associations to one of nine autoimmune and inflammatory diseases and can identify a causal gene expression trait for 25% of loci, and a specific regulator in 36% of loci. Our results suggest that the remaining loci represent mechanisms active only in specific cell populations under specific stimulus contexts, and we are now working to generate in-depth profiles of these contexts across large experimental populations.

About the Speaker:

My primary focus has been to unite genetic mapping with genomic approaches to understand the biological basis of immune-mediated diseases. To this end my group have led studies to map genes in autoimmune disease, metabolic disease, and molecular traits such as gene expression levels; been a leading member of international consortia focused on the genetics of these diseases; and developed analytical methods to analyze genetic data and to translate genetic associations into mechanistic hypotheses of pathogenesis.



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