Research Fellows Directory
Dr Carmel Toomes
University of Leeds
FEVR is an inherited blinding disorder caused by the underdevelopment of vessels in the eye. FEVR is caused by mutations in a number of different genes and I try to identify these by analysing patterns of inheritance in DNA samples from members of FEVR families. Once I identify an FEVR gene, I try to understand what its normal role is in blood vessel development and how/why it causes disease when mutated. I also try to piece together the molecular pathways the gene acts within.
Identifying and characterising the genes involved in FEVR is important for a number of reasons. It immediately benefits FEVR patients by facilitating improved genetic diagnosis and counselling. It also increases our knowledge and understanding of the mechanisms underlying FEVR bringing the prospect of therapies for this debilitating disease ever closer.
What is exciting about this research is the hope that it may also shed light on 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 ubiquitous, so work on these may also shed light on vascular development throughout the body. Consequently, despite FEVR being rare, the findings obtained from this research could potentially lead to the development of therapies for a whole range of disorders.
Interests and expertise (Subject groups)