Unravelling mechanisms for Islet Dysfunction in diabetes from GWAS

Professor Anna Gloyn, Oxford Centre for Diabetes Endocrinology and Metabolism and the Wellcome Trust Centre for Human Genetics, University of Oxford

This Special School Seminar is taking place as part of the 11th Australian Islet Study Group Meeting.

Professor Anna Gloyn completed her DPhil at the University of Oxford under the supervision of the late Professor Robert Turner. Her post-doctoral training was carried out at the University of Exeter under the mentorship of Professors Andrew Hattersley & Sian Ellard and at the University of Pennsylvania in Philadelphia under the mentorship of Professor Franz Matschinsky.

Anna’s research is focused on using naturally occurring mutations in humans as tools to identity critical regulatory pathways and insights into normal physiology. Anna’s early post-doctoral research led to the identification of a new genetic aetiology for permanent and transient neonatal diabetes due to KCNJ11 mutations and resulted in one of the first examples of the determination of the molecular genetic aetiology leading to improved treatment options for patients.  Whilst in Oxford, Anna's team discovered a novel genetic cause of constitutive insulin sensitivity in humans due to mutations in the PTEN gene highlighting the complex interplay between pathways involved in cell-growth and metabolism.

Anna's current research projects are focused on the translation of genetic association signals for type 2 diabetes and glycaemic traits mechanisms for beta-cell dysfunction and diabetes. Her group uses a variety of complementary approaches, including human genetics, genomics, physiology and islet-biology to dissect out the molecular mechanisms driving disease pathogenesis.

Anna is an active member of multiple internal genetic discovery efforts including:  NIH/Pharma funded Accelerated Medicines Partnership,  DIAGRAM (Diabetes Genetics Replication and Meta-analysis), MAGIC (Meta-analysis of Glucose and Insulin traits Consortium), Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) and the Genetics of Type 2 Diabetes (GoT2D). She is also involved in the IMI funded STEMBANCC project which is working to deliver human IPS cell derived beta-cell models for drug discovery efforts.