Veronique Vitart (Affiliate)
From Gene to Function
Research in a Nutshell
The overarching goal of my research group is to leverage population genetic findings to understand molecular mechanisms underlying common complex diseases/conditions. A major focus is on identifying genetic variants affecting vision and understanding how they exert their effects. We are particularly interested in those increasing risks of keratoconus- a leading cause of corneal transplants- or of myopia and hyperopia, extreme forms of which are associated with severe vision impairments. We, and others, identified many candidate variants by performing genome-wide association studies (GWAS) on associated quantitative biometrical traits. We are additionally seeking disease risk variants by analysing families with severe myopia or hyperopia from the island of Lewis/Harris in Scotland and carrying-out case-control studies of retinal detachment, a blinding condition for which high myopia is a risk factor. We are conducting both computational and experimental projects to decipher the physiological roles of established associations. This line of research makes use of the latest developments in statistical genetics, the growing sources of molecular traits GWAS, biological gene-sets and functional annotations, and the establishment of cell and animal models.
People |
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Veronique Vitart | Group Leader |
Camilla Drake | Research assistant |
Chloe Stanton | Investigator scientist |
Xinyi Jiang | PhD student |
Contact
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
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The Royal College of Surgeons of Edinburgh
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National Eye Research Centre
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Fight for Sight
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