Applying the power of genetics to increase knowledge of underlying mechanisms of recessively-inherited congenital hyperinsulinism

Sarah is a molecular geneticist whose research focuses on monogenic disorders of insulin secretion. Her primary interest is in understanding the genetic basis of congenital hyperinsulinism, a severe, potentially devastating disorder characterised by the inappropriate secretion of insulin despite hypoglycaemia. Using a combination of homozygosity mapping studies and next-generation sequencing, Sarah aims to identify novel disease genes for congenital hyperinsulinism in the 60 per cent of patients currently without a genetic diagnosis. Understanding the underlying mechanisms of this disease will provide vital novel insights into beta-cell physiology and insulin secretion.