Our laboratory focuses on discovering genetic defects underlying Mendelian and complex disorders with special emphasis on eye diseases. The first step in discovering the underlying mechanisms of a disorder is the cloning and characterization of the relevant gene(s) and determining the mutation spectrum, causative for each individual phenotype. This goal is achieved in our lab by systematic screening of candidate genes on large collections of patient DNA with semi-automated, high-throughput mutation detection and genotyping technologies. Among candidate genes under analysis, we are specifically interested in those involved in age-related macular degeneration (AMD).  At this end, we have succeeded in defining three genes/loci, ABCA4 (ABCR), factor H (CFH) and factor B (CFB), which explain over 75% of the genetic susceptibility underlying this complex trait.

Our discovery of the role of ABCA4 in Stargardt disease and AMD in 1997 has advanced research in our laboratory into a true “from bench to bedside” program, from discovering the causes of retinal disease and utilizing these findings to develop advanced and efficient methods for diagnostics, to finding efficient treatment options for precisely diagnosed patients.

Major research objectives of the laboratory are: (1) analysis of genetic variation in candidate genes for complex disorders, such as age-related macular degeneration (AMD); (2) development of microarray-based screening technologies, “gene chips” and “disease chips”; (3) new therapeutic approaches for eye diseases, including lentiviral gene therapy and small molecule drugs.

Clinical Research Coordinator:
Tiia Falk

Grants Manager:
Kara Bauer