Forbes D. Porter, M.D., Ph.D.
Section on Molecular Dysmorphology
Building 10, Room 5-2571
10 Center Drive
Bethesda, MD 20892
Dr. Porter’s research group investigates molecular, biochemical, cellular, and developmental processes that underlie genetic syndromes. Specifically, his research has focused on two rare genetic disorders, Smith-Lemli-Opitz syndrome, 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 storage disease due to impaired intracellular cholesterol transport. 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 and NPC1. Laboratory work is focused on development and characterization of 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 both SLOS 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.
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.
Wassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, Ory DS, Ponting CP, Bailey-Wilson JE, Biesecker LG, Porter FD. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med. 2016;18(1):41-8.
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.
Cologna SM, Jiang XS, Backlund PS, Cluzeau CV, Dail MK, Yanjanin NM, Siebel S, Toth CL, Jun HS, Wassif CA, Yergey AL, Porter FD. Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. PLoS One. 2012;7(10):e47845.