The Laboratory of Molecular Genetics implements a three-step translational, “from bench to bedside”, program consisting of: 1) discovering the genetic cause of retinal disease, 2) developing advanced methods for molecular diagnostics and, 3) finding efficient treatment options for precisely diagnosed patients.

The first step in discovering the underlying mechanisms of any 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 by a combination of classical genetic methods from linkage analysis to association studies of candidate genes on large collections of patient DNA with semi-automated, high-throughput mutation detection and genotyping technologies. Some genes/loci discovered in the laboratory include the gene responsible for Stargardt disease and cone-rod dystrophy, ABCA4 (ABCR), and susceptibility loci for age-related macular degeneration containing genes involved in complement response, factor H (CFH), factor B (CFB), and complement component 2 (C2).

Microarray-based diagnostic screening technologies developed in the laboratory in collaboration with Asper Biotech, Tartu, Estonia, include “gene chips”, where all known variants from a single gene, i.e., ABCA4, are arrayed on the chip, and “disease chips”, where all variants from all genes responsible for a phenotype, such as LCA and RP, are included on one array.

Therapeutic approaches include lentiviral gene therapy for Stargardt macular dystrophy and other retinal diseases and modulating the visual cycle by small molecule compounds. In summary, the laboratory provides comprehensive gene discovery, diagnostic and treatment programs for many eye diseases.

Associate Research Scientist:
Jian Kong, MD
Joanna Merriam, MD, PhD

Postdoctoral Research Fellow:
Tomas Burke, MD

Staff Associate:
Jana Zernant, MS

Graduate Student:
Nancy Parmalee, MA

Technician A:
Carl Schubert, BA

Clinical Research Coordinator:
Neeco Palmer

Divisional Administrator:
Kara Bauer

Grants Manager:
Ana Garcia