Dr. Abhishek Vats from Johns Hopkins Hospital Awarded $90,000 Grant for Leber’s Hereditary Optic Neuropathy Research

Dr. Abhishek Vats from the Wilmer Eye Institute, Johns Hopkins Hospital was awarded a $90,000 grant for his research entitled: Use of Stem Cell Models to Explore the Preferential Sensitivity of RGCs in Leber’s Hereditary Optic Neuropathy.

Leber’s Hereditary Optic Neuropathy (LHON) is the most common childhood optic neuropathy.

Disease onset is generally between age 10–30 years and disease prevalence is approximately 1:50,000, worldwide. LHON mainly affects the retinal ganglion cells (RGCs), the neurons whose axons make up the optic nerve, which is responsible for transmitting visual information from the retina to the brain. Damage to the optic nerve, as occurs with LHON, can obstruct the visual signals from reaching the visual cortex, thereby causing significant vision loss. LHON is a hereditary disease caused by mutations in the mitochondrial genes that encode subunits of the massive enzyme, NADPH dehydrogenase, which is necessary for generating ATP, an essential source of energy in all cells. Interestingly, even though this enzyme is essential for all the cells in the body, LHON-associated mutations seem to preferentially cause RGCs to degenerate, a phenomenon which is not well understood. With the remarkable breakthroughs in stem cell technology, cells can now be created from patients’ skin biopsies, or blood samples, that can be altered in the lab and coaxed to develop into a variety of different cell types. Dr. Vats will use cells from LHON patients, as well as cells from volunteers without LHON, to create RGCs as well as other retinal cells in order to study the mechanism(s) causing preferential damage to RGCs. Dr. Vats is hoping to better understand the pathology of LHON and lead to the development of potential LHON therapeutics.