John Inglis prize 2017 awarded for best student presentation
Congratulations to Abigail Little and Gabrielle Olley for winning this year's John Inglis prize for the best student presentation: June 2017
This year we had 12 excellent talks across a range of research areas from penultimate year students at the MRC Human Genetics Unit.
Abigail Little: ZDHHC5: A New Interactor of RP2
"My project aims to understand the mechanisms which underlie the disease retinitis pigmentosa. Retinitis Pigmentosa is a disease which causes retinal degeneration and blindness in patients which there is currently limited treatment options and no cure. By understanding how the genes which cause the disease function and are regulated we hope to better understand the mechanism which underpins disease pathogenesis in patients with the ultimate goal of identifying potential new drug targets for treatment "
Gabi Olley: Investigating how a point mutation in BRD4 affects protein function and causes Cornelia de Lange Syndrome
"Cornelia de Lange Syndrome (CdLS) is a neurodevelopmental disorder that occurs in around 1 in 10,000 births. There are a number of different mutations that can cause CdLS, but the mechanism behind this is poorly understood. The aim of my research is to characterise a specific CdLS patient DNA mutation which causes a single amino acid change in a protein called BRD4. In doing so we hope that we might further our understanding of both the underlying causes of CdLS and the functions of BRD4. "
This prize was set up in memory of John Inglis, who completed his PhD at the MRC Human Genetics Unit