The Gene Transfer Laboratory aims to investigate neuronal death mechanisms and test therapeutics, with a focus on mitochondrial diseases. We have three ongoing projects related to neurodegenerative disorders caused by mitochondrial gene mutations.

The first project aims to understand the causes and develop potential treatments for Leber hereditary optic neuropathy (LHON), the most common primary mitochondrial genetic disorder. Our lab, led by the late John Guy, M.D., a professor of ophthalmology at Bascom Palmer, has pioneered a novel technology to introduce DNA directly into mitochondria in vitro and in vivo. This technique enables us to restore respiratory function in LHON-mutated cells, create LHON animal models, and test therapeutic strategies.

The second project focuses on developing clinically relevant approaches for treating Maternally Inherited Leigh Syndrome (MILS) and Neurogenic Ataxia and Retinitis Pigmentosa (NARP), two devastating neurologic diseases that often result in death and blindness among children and young adults. Using our mito-targeting technology, we aim to create an animal model with a mutated mitochondrial gene ATP6 and investigate the potential of re-expressing wildtype ATP6 to reverse the isomorphic phenotype.

In the final project, led by Professors of Ophthalmology Vittorio Porciatti, D.Sc., and Byron L. Lam, M.D., we will conduct pre-clinical studies to explore interventions for LHON. With the utilization of our mito-targeting technology, we will deliver wildtype ND4 directly into mitochondria of LHON mouse models to assess the safety and effective.