MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Molecular Genetics of Vision-Related Traits

Research Programme

Section: Disease Mechanisms

Research in a Nutshell

Our focus is on genetic variants affecting vision in particular those relevant to keratoconus, the leading cause of corneal transplants, to myopia and hyperopia, which in their extreme forms are associated with severe vision impairment. Knowledge of the genetic architecture of associated quantitative biometrical traits is rapidly expanding using genome-wide association studies (GWAS) carried out within large international consortia. We are additionally seeking disease risk variants by analysing families with severe myopia or hyperopia from the island of Lewis/Harris in Scotland and assembling case-control studies of retinal detachment, a blinding condition for which high myopia is a risk factor. It is hoped that these latter efforts will provide functionally interpretable variants when rare variants of strong effect within a gene are identified. Deciphering the mechanism by which the discovered variants or genes act requires dedicated, often time-consuming, experiments. Our aim is to pursue the most biologically revealing candidates and gain a molecular understanding of how they exert their effect using human cell lines and primary tissues, and integrating local world-leading expertise in animal models, editing technology, and gene-expression regulation. 

 

People

 
Veronique Vitart Group Leader
Camilla Drake Research Assistant
Chloe Stanton Postdoctoral Scientist

Collaborations

  • Professor Wendy Bickmore, Dr Shipra Bhatia, Professor Ian Jackson
  • Dr Roly Megaw, clinical lecturer, University of Edinburgh
  • Professor David Charteris, Dr Danny Mitry and Dr Aman Chandra, Moorfield’s Eye  Hospital
  • Dr Forbes Mason, University of Manchester
  • Dr Andrew Pyott, Raigmore Hospital, Inverness

Partners and Funders

  • MRC

Scientific Themes: genetics of eye diseases, genome-wide association study,linkage, editing, gene expression analysis

Technology Expertise: genetics, genome-wide association study, linkage, editing, gene expression quantitation, exome and whole genome sequences analysis