Areas of Interest
Hereditary retinal disorders, autoimmune retinopathies, ophthalmic genetics and electrodiagnostics
The Heckenlively research laboratory focuses on the investigation of retinal degenerations. We have a number of ongoing projects that include:
Basic research activities:
- Mutational analysis in retinitis pigmentosa and retinal dystrophy patients to identify the underlying causes by DNA candidate gene and family studies. As part of the Foundation Fighting Blindness retinal degeneration center, we have an investigational module for clinical and electrophysiological studies, including mutational analysis for our retinal dystrophy patients. We collaborate with other Kellogg Eye Center scientists investigating X-linked retinitis pigmentosa; the group looks at mechanisms and effects of XL-RP in mouse and human, performs interventional therapeutic studies in mouse models of retinal degeneration, and uses pharmacologic, progenitor cell, and anti-apoptotic methodology. We also have extensive collaborations with molecular genetic scientists around the country for sharing DNA or mouse retina samples of interest to their laboratories.
- Through hypothesis-driven clinical methodologies, we have been screening mouse colonies and inbred strains at the Jackson Laboratory (Bar Harbor, ME) for mouse models of human hereditary retinal diseases (NEI/NIH grant, Bo Chang, MD, JAX Co-PI). This effort includes gene identification for the diseases, investigation of the natural history and features of the phenotype with clinical and molecular techniques, electrophysiological evaluations, and histology. To date, the project has found over 110 different genetic mouse eye models for human ocular diseases. In a number of diseases, we found the gene first in mouse, which was then validated as the underlying disease gene in the human condition.
- Investigation of the genetic causes or contributions to age-related macular degeneration (AMD) by SNP-based association studies, and studies of mitochondria-associated genes in AMD patients and age-matched normal controls. Our project has enrolled over 3000 seniors in this study. Dr. Anand Swaroop, now at NIH, initiated this research effort and continues to consult for this project.
- Investigations of autoimmune retinopathy, a pan-retinal degenerative process that can mimic retinitis pigmentosa. We established a diagnostic and investigational autoimmune laboratory that performs high quality immunologic and proteomic analysis for anti-retinal antibodies with identification of known antigenic retinal proteins. In addition, we have been able to establish two different mouse models for autoimmune retinopathy that will allow for the investigation of specific retinal antigens and their immunologic effects on the retina.
Diagnosis and treatment of inherited eye diseases, including cone dystrophy, retinitis pigmentosa, and macular degeneration; unusual retinal dystrophies; clinical electrophysiology of vision; autoimmune retinopathy