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

Senior Investigator

Section on Molecular Dysmorphology


Clinical Director


NIHBC 10 - CRC 5-2571


Research Topics

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.

Selected Publications

  1. Yanjanin NM, Vélez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos-Burgos M, Patterson MC, Porter FD. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet. 2010;153B(1):132-40.
  2. Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, Olzeski D, Sidhu R, Dietzen DJ, Fu R, Wassif CA, Yanjanin NM, Marso SP, House J, Vite C, Schaffer JE, Ory DS. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med. 2010;2(56):56ra81.
  3. Francis KR, Ton AN, Xin Y, O'Halloran PE, Wassif CA, Malik N, Williams IM, Cluzeau CV, Trivedi NS, Pavan WJ, Cho W, Westphal H, Porter FD. Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes. Nat Med. 2016;22(4):388-96.
  4. Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD. Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. Lancet. 2017;390(10104):1758-1768.
  5. Solomon BI, Smith AC, Sinaii N, Farhat N, King MC, Machielse L, Porter FD. Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1. JAMA Neurol. 2020;77(12):1564-1568.

Related Scientific Focus Areas

This page was last updated on Monday, November 13, 2023