Stanford Pediatric Grand Rounds: Lessons From Genetics for Diabetes: Bench to Bedside (01.20.2020)

Pediatric Grand Rounds: Lessons From Human Genetics for Diabetes: From Bench to Bedside

Anna Gloyn, DPhil
Professor of Molecular Genetics & Metabolism , University of Oxford
Oxford Centre for Diabetes Endocrinology & Metabolism, Churchill Hospital

Session Description
This lecture will provide an overview on the genetic basis for diabetes focusing on where genetic discoveries have impacted clinical care and management. The value of human models for understanding human disease will be discussed and the implications our understanding of the genetic basis of rare forms of diabetes has for understanding more complex and common forms of diabetes (e.g. T2D) which are increasingly more prevalent in paediatric clinics will be discussed.

Education Goals
An appreciation of the power of human genetics to provide fundamental insights into human metabolism
Recognition that there are rare monogenic subtypes of diabetes, many of which present in children and young adults
Challenges in differentiating the diagnosis of individuals with rare monogenic diabetes from T1 and T2 diabetes
Subjects with KCNJ11 activating mutations can be treated with oral sulphonylureas rather than insulin injections