“In and Out of Context: Deciphering the Genetic and Genomic Architecture of Type 2 Diabetes”
Type 2 diabetes (T2D) is a major cause of morbidity and mortality worldwide. Genome-wide association studies (GWAS) have revolutionized our understanding of the genetic underpinnings of T2D by detecting >600 associated loci, laying the groundwork for precision and personalized medicine. Integrating genomics into healthcare will improve individual risk prediction, tailor prevention programs, and optimize treatments based on a person’s unique genetic profile. Unfortunately, the mechanisms (e.g., target gene, functional variant, and direction of effect) by which the T2D-associated genetic variants influence T2D development are largely unknown, currently limiting the clinical utility of genetics and genomics. This presentation will cover current T2D-variant discovery efforts from the T2DGGI consortium, steady-state and context-specific variant-to-function efforts in pancreatic islets, and examples of how to incorporate genetic risk for T2D into public health and healthcare.

Bio : Following a PhD in Epidemiology at the University of Iowa, Cassie Spracklen worked as a Postdoctoral Fellow with Professor Karen Moelke at the University of North Carolina, Chapel Hill. In 2019 she was appointed to a tenure track position at the University of Massachusetts, Amherst. She has led several projects within the Asian Genetic Epidemiology Network (AGEN), and is currently co-lead of the fine-mapping working group within the Genetic Investigation of Anthropometric Traits (GIANT) consortium.
Date: 16 April 2024, 14:00 (Tuesday, 0th week, Trinity 2024)
Venue: Big Data Institute, Old Road Campus OX3 7LF
Venue Details: Seminar room 0
Speaker: Dr Cassandra Spracklen (University of Massachusetts)
Organising department: Big Data Institute (NDPH)
Organisers: Dr Robin Walters (University of Oxford), Sumeeta Maheshwari (University of Oxford)
Organiser contact email address: robin.walters@ndph.ox.ac.uk
Booking required?: Not required
Audience: Members of the University only
Editor: Sumeeta Maheshwari