Dr Carmel Toomes
University Research Fellow
Molecular Medicine Unit, University of Leeds
The identification and analysis of genes and proteins involved in FEVR
"Eye diseases are among the most common inherited human disorders and around one third of all genetic defects or syndromes involve the eye. My research aims to identify the genes underlying human blindness, and to explore the impact of genetic mutations on blood vessel development within the eye.
Familial Exudative Vitreoretinopathy (known as FEVR) is an inherited blinding disorder caused by mutations in a number of different genes which result in the underdevelopment of blood vessels in the eye. The aim of my work is to identify the genes that cause this disease by analysing patterns of inheritance in DNA samples from members of FEVR families. Once a FEVR gene is identified, I try to understand its normal role in blood vessel development, the changes that a mutation can cause, and the molecular pathways that the gene acts on.
Identifying and characterising the genes involved in FEVR brings immediate benefits to patients and families by facilitating improved genetic diagnosis and counselling. My work also increases our knowledge and understanding of the mechanisms underlying FEVR and hopefully brings the prospect of therapies for this debilitating disease ever closer. Additionally, this research may inform our understanding of other eye diseases with an abnormal retinal vasculature component such as retinopathy of prematurity, diabetic retinopathy and age-related macular degeneration: the leading causes of blindness in the Western world.
Furthermore, evidence suggests that the pathways involved in retinal vessel formation are similar throughout the body, and so research into FEVR may increase our understanding of other diseases such as cancer and arthritis, and potentially lead to the development of therapies for a whole range of disorders."