One of the rare diseases characterised by the Semple group is Mandibular Hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) disorder. Image One of the rare diseases characterised by the Semple group is Mandibular Hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) disorder (Weedon et al Nature Genetics 2012). This is caused by mutations in the catalytic subunit of Polymerase Delta, an enzyme that replicates lagging strand DNA and repairs damaged DNA. Studies are underway to elucidate the mechanism whereby these mutations lead to MDPL by studying the behaviour of cells and animals edited by CRISPR-Cas9 to mimic human MDPL mutations, and by performing assays of mutated POLD1 proteins in vitro. Related Researchers This project is led by Dr Dominique McCormick. Dom obtained her PhD from the University of East Anglia in 2014, characterising expression and effects of microRNAs during chick cardiogenesis. As a post-doctoral fellow in the Grey lab at the Roslin Institute she studied the interaction of microRNAs with their targets during Human Cytomegalovirus infection, as well as several host factors essential for viral assembly and egress. She joined the Semple lab in 2019. Funding Wellcome Trust This article was published on 2024-03-19
