National Eye Institute, NIH
Bethesda, MD, USA
Brian Brooks, MD, PhD is the Chief of Ophthalmic Genetics & Visual Function Branch at the National Eye Institute. He is one of the few ophthalmologists in the nation credentialed by both the American Board of Ophthalmology and the American Board of Medical Genetics. As a fellowship-trained pediatric ophthalmologist with twenty years of clinical experience, he studies inherited blinding diseases of children. As a former Clinical Director of the National Eye Institute, he has significant experience in the running of clinical natural history studies and clinical trials. His research focuses on better understanding the molecular basis of inherited eye diseases and identifying new treatments. Recently, his lab and clinical research have focused on understanding the molecular mechanism of developmental eye abnormalities in albinism and testing potential treatments for this condition. His group has demonstrated that an FDA-approved drug, Nitisinone, increases the melanin pigmentation in the fur, skin and eyes of mice with OCA1B. This work was translated into a first-in-human pilot clinical trial, where an overall increase in hair/skin melanin was notable in some individuals. Dr. Brooks’ lab was also able to purify a tyrosinase protein and then use that protein to perform high throughput drug screens to identify new compounds that stimulate enzyme activity. Dr. Brooks was the first to describe a new syndrome, COMMAD, caused by compound heterozygous pathogenic variants in MITF and characterized by albinism, microphthalmia/anophthalmia, profound sensorineural deafness, and osteopetrosis. Furthermore, his group has described the first in vitro models of OCA1A and OCA2 in human retinal pigment epithelium (RPE) derived from patients’ induced pluripotent stem cells. Current areas of research include the development of novel outcome variables for quantitating the visual performance of people with albinism in preparation for future clinical trials. Dr. Brooks’ group has also identified differentially regulated molecules in albinism RPE that may provide clues to the non-cell autonomous effects this tissue has on neural retinal development.
Brian Brooks was a member of the scientific committee of ISCA 2022.