Huw Thomas

Huw is a Postdoctoral Research Associate under the supervision of Prof. William Newman and Prof. Ray O’Keefe. His research is funded by the MRC and his main project is titled “Characterising the molecular and cellular mechanisms of Perrault syndrome”. His research focuses on how rare genetic variants in mitochondrial-associated genes contribute to diverse clinical phenotypes, including leukodystrophy, hearing loss, retinal dystrophy, and ovarian insufficiency. He also specialises in characterising variants of uncertain significance, particularly their role in aberrant splicing linked to rare genetic disorders.