A journey of metabolic discovery: from rare disease and rare variant, to common trait and common variant

Throughout my career my lab has been focused on studying rare syndromes of insulin resistance, early onset childhood obesity, as well as much common conditions such as “garden variety” obesity, type 2 diabetes, and associated glycaemic traits. During my talk I will focus on recent studies ranging from rare variant and rare disease to common variant/ common trait highlighting three different vignettes which demonstrate the multidisciplinary approach in the group and the relation between the various diseases and approaches we have taken. I will discuss: a. modelling a rare pancreatic agenesis syndrome; b. exome sequencing studies of early onset obesity; and recent progress in identifying distinct genomic and expression signatures among different glycaemic traits.