Rachel Huckfeldt, MD, PhD, Receives 2021 Iraty Award for Research in Retinal Diseases

This year's award honors Rachel Huckfeldt, MD, PhD, a clinician scientist who specializes in inherited retinal degenerations at Mass Eye and Ear and Assistant Professor of Ophthalmology at Harvard Medical School. The award, which includes a $100,000 prize, was established by an anonymous donor to pay tribute to the life and work of Dr. Charles Schepens—the father of modern retinal surgery and a World War II hero.

This award will support Dr. Huckfeldt's research to test the hypothesis that mutations in the mitochondrial gene MTTL1 are an under-recognized cause of retinal disease. She will assess screening methods to identify potentially affected patients. The diagnosis of MTTL1-associated disease has significant implications for ophthalmic care and overall health, as well as for at-risk family members.

Dr. Huckfeldt will use the Mass General Brigham Research Patient Data Registry to screen for patients with diagnoses and findings suspicious for MTTL1-associated disease and review unsolved cases in the Ocular Genomic Institute database. These data will then be used to develop and test simple clinical screening tools for ophthalmologists to aid in the identification of these patients during routine care.