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Monogenic Type 1 Diabetes: A High Yield Pool in Which to Discover New Mechanisms and Candidate Therapeutics for Type
Chester E Chamberlain1, Michael S German2, Louis H Philipson3
1Diabetes Center, University of California, San Francisco, San Francisco, California 94143, USA chester.chamberlain@ucsf.edu mark.anderson@ucsf.edu.
Abstract:
Rare monogenic forms of disease provide a unique opportunity to understand novel pathways in human biology. With the rapid advances in genomics and next-generation sequencing, we now have the tools to interrogate the genomes of patients on a large scale to identify candidate genes in patients with rare monogenic forms of type 1 diabetes (T1D). These cases are more likely to represent genetic defects in critical pathways of immune tolerance, and the study of these patients provides a high-yield pool in which to discover new mechanisms of disease in T1D. These studies are also expected to have high translational impact for the T1D community by helping to identify at-risk individuals and provide compelling candidate targets for prevention and treatment.
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