Forbes D. Porter, M.D.,Ph.D.

Cholesterol Metabolism and Genetic Syndromes

Dr. Porter’s research group investigates molecular, biochemical, cellular, and developmental processes that underlie genetic syndromes. Specifically, his research has focused on rare genetic disorders, Smith-Lemli-Opitz syndrome, CLN3 disease and Niemann-Pick Disease, type C1. Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis that results in birth defects and cognitive impairment. Niemann-Pick Disease, type C1 (NPC1) is a neurodegenerative, lysosomal disease due to impaired intracellular cholesterol transport. CLN3 disease, like NPC1, is a neurodegenerative, lysosomal disease; however, the function of the CLN3 protein is not known. The goal of his sections research efforts is to combine both basic science and clinical expertise to develop and test novel therapeutic interventions for SLOS, CLN3 disease and NPC1. Laboratory work is focused on development and characterization of neuronal, zebrafish and mouse models to gain insight into pathological processes underlying these genetic disorders utilizing molecular, biochemical and proteomic techniques. This basic science work complements clinical work by this section which includes longitudinal natural history studies of SLOS, CLN3 disease and NPC1. The combination of both basic and clinical science efforts in this research group truly allows for both an integrated bench-to-bedside and bedside-to-bench approach toward understanding the pathology of these disorders and developing therapeutic interventions.

Dr. Forbes D. Porter received his M.D. and Ph.D. degrees from Washington University in St. Louis and subsequently trained in Pediatrics and Genetics at St. Louis Children’s Hospital. He is board certified in Pediatrics and Clinical Genetics. Dr. Porter came to the NIH in 1993 as a postdoctoral fellow in Dr. Heiner Westphal’s laboratory and subsequently formed his own research laboratory in the Heritable Disorders Branch of NICHD. Dr. Porter’s research at the NIH has been focused on understanding pathophysiological processes underlying human genetic disorders in order to develop and test therapeutic interventions.

Dr. Porter served as the Program Head for the Program on Pediatric Developmental Endocrinology and Genetics from 2011 through 2015 and as the NICHD Clinical Director from 2010 through 2022. Dr. Porter continues to serve as the Director of the NICHD Molecular Genomics Core. Dr. Porter serves on multiple medical/scientific advisory boards corresponding to the rare disorders studied by his section. Dr. Porter was elected to the Association of American Physicians in 2019.