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.
Tierney E, Conley SK, Goodwin H, Porter FD. Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2010;152A(1):91-5.
Jiang XS, Wassif CA, Backlund PS, Song L, Holtzclaw LA, Li Z, Yergey AL, Porter FD. Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. Hum Mol Genet. 2010;19(7):1347-57.
Jiang XS, Backlund PS, Wassif CA, Yergey AL, Porter FD. Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. Mol Cell Proteomics. 2010;9(7):1461-75.
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.