Research Groups
Ophthalmogenetics
The Ophtalmogenetics research team studying the genetic of eye diseases is involved in several studies focusing on pigmental degeneration of the retina, glaucoma and age-related macular degeneration. Our work is financed through grants provided by National Science Fund, Ministry of Science and Education as well as Medical University-Sofia. The team`s research activities in the field involve both screening for common mutations and polymorphic variants in genes known to affect the normal eye physiology, such as ABCA4 (involved in age related macular degeneration) and CYP1B1 (shown to be affected in patients with glaucoma), as well as identification of novel genes responsible for defects in eye development through association and linkage studies in founder Roma population. Recently, a major breakthrough in the study of genetic causes of Retinitis Pigmentosa in the Bulgarian Roma population lead to the identification of LTBP2 as one of the genes involved in the pathogenesis of primary congenital glaucoma.
The researchers in the Ophtalmogenetics team work in close collaboration with Prof. Bhattacharya, and Dr. C. Chakarova, Institute of Ophthalmology , UCL, London, leading to the discovery of mutations contributing to RP in two extended Roma families. The team has also a long standing tradition collaborating with Prof. Kalaydjieva., UWA, Australia.
Team members:
Clinical collaborators:
Prof. I. Tournev MD, PhD
Assoc. Prof.. Silvia Cherninkova, MD, PhD, Department of Neurology, MU - Sofia.
