Brian P. Brooks, M.D., Ph.D.

The goal of Dr. Brooks' research is to understand the causes and mechanisms of inherited eye diseasesóespecially those that affect children--and to use that knowledge to develop prevention strategies and treatments. Currently, his lab is focused on two diseases: 1) uveal coloboma and 2) albinism. Uveal coloboma is a potentially-blinding congenital eye malformation. Sometimes uveal coloboma occurs in isolation; sometimes, it is associated with other systemic findings (syndromic coloboma.) Most often, coloboma presents sporadically in families, but there are also cases where coloboma can be directly inherited through a parent. Although we have understood the process in eye embryology that leads to coloboma (optic fissure closure), the precise mechanisms by which this process occurs are still largely unknown. Moreover, although mutations in multiple genes have been associated with coloboma, most cases are genetically unexplained. These observations make genetic counseling and molecular diagnosis difficult in a clinical setting. The goal of this research is to better understand the genetic causes of coloboma and to apply this knowledge in a clinical setting to patients and their families. Albinism is an inherited disorder associated with reduced melanin pigment in the hair, skin and/or eyes. Children with albinism usually have reduced visual acuity and nystagmus (an involuntary rhythmic shaking of the eyes). Although children with albinism frequently require glasses, spectacles or contact lenses usually cannot fully correct their vision because the area of the retina that gives people their best visual acuityóthe foveaódoes not develop normally. The goal of our research is to better understand how a defect in melanin pigment formation leads to fovea formation and to find treatments that might improve pigmentation (and thereby possibly improve vision) in patients with albinism.

Dr. Brooks graduated summa cum laude, with general honors and honors in zoology, from the University of Maryland. He was supported during his training in the MD, PhD. program at the University of Pennsylvania by the Medical Scientist Training Program. Residency training in ophthalmology and a fellowship in pediatric ophthalmology were completed at the University of Michigan. Dr. Brooks completed a fellowship in medical genetics at the National Human Genome Research Institute and is board-certified by the American College of Medical Genetics and the American Board of Ophthalmology. He has published numerous articles and book chapters on the genetics of eye disease and has received numerous awards, including the Presidential Early Career Award for Science and Engineering (PECASE), the nation's highest honor for young investigators.