“
MY GOAL IS TO LAY THE
GROUNDWORK FOR NEW THERAPIES FOR CHOROIDEREMIA AND OTHER DISEASES
IMPACTED BY THE DEGENERATION OF THE
“
Finding New Pathways for the Treatment of Choroideremia
BLOOD SUPPLY TO THE OUTER RETINA. — Abigail Fahim, M.D., Ph.D.
Many blinding retinal diseases, including inherited diseases like choroideremia and age-related macular degeneration (AMD), share a common characteristic: the degeneration and death of the choroid, the layer of blood vessels and tissue between the retina and the sclera that supplies blood to the outer retina. Kellogg Assistant Professor Abigail Fahim, M.D., Ph.D., has been awarded a National Institutes of Health Mentored
“With the guidance of my ‘dream team’ of mentors,” she says, “my goal is to lay the groundwork for new therapies for choroideremia and other diseases impacted by the degeneration of the blood supply to the outer retina.”
Clinical Scientist Research Career Development (K-08) award to explore the role that dysfunction in the retinal pigment epithelium (RPE) plays in choroidal death. “We know that choroideremia is caused by a genetic mutation that disrupts a process called membrane trafficking, essential to the health of RPE cells as well as the neighboring choroid and photoreceptors” she explains. “But many fundamental questions about how that happens remain unanswered.” Several innovations make Dr. Fahim’s research approach unique, including the use of a gene-edited, human stem cell-derived RPE model she developed. Past research in choroideremia has relied on mouse models, which provide an incomplete profile of the human disease. Building on her experience in the genetics and molecular mechanisms of inherited retinal diseases, Dr. Fahim will be supported by a team of five mentors located at U-M and abroad, who will lend their expertise in study design and data analysis to maximize the project’s translational impact.
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K08 Award
Dr. Fahim’s K-08 Mentor and Advisor Team: Yoichi Osawa, Ph.D., Professor of Medicine; Professor and Associate Chair of Innovation, Department of Pharmacology Debra A. Thompson, Ph.D., Professor of Ophthalmology and Visual Sciences; Professor of Biochemistry Jack Parent, M.D., Professor of Neurology; Director, Neurodevelopment and Regeneration Laboratory David Antonetti, Ph.D., Professor of Ophthalmology and Visual Sciences; Professor of Integrative Physiology Robin Ali, Ph.D., Professor of Human Molecular Genetics; Deputy Director, Biomedical Research Centre and Head of the Centre for Cell and Gene Therapy, King’s College London; Visiting Professor, Kellogg Eye Center
