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Porter Lab: Section on Molecular Dysmorphology

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Forbes Porter's Section on Molecular Dysmorphology studies a group of human and mouse malformation syndromes attributable to inborn errors of cholesterol synthesis. The most common of these disorders is the Smith-Lemli-Opitz syndrome (SLOS). The Section studies both basic science and clinical aspects of SLOS, with the goal of developing and testing therapeutic interventions for SLOS. A clinical trial evaluating the safety and efficacy of simvastatin therapy in SLOS has completed enrollment. This past year, the Section received a Bench-to-Bedside award to investigate the role of impaired glycosphingolipid transport in SLOS. The Section also continues to study other inborn errors of cholesterol synthesis and recently described the biochemical and phenotypic consequences of disrupting sterol Δ14-reductase. Over the past year, the Section initiated a clinical study of patients with Niemann-Pick disease, type C (NPC), a neurodegenerative disorder caused by impaired intracellular transport of cholesterol and glycosphingolipids. The protocol is designed to investigate biochemical markers and clinical aspects of NPC that could potentially be used as outcome measures in a future clinical trial.

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Last Reviewed: 11/30/2012

Contact Information

Name: Dr Forbes Porter
Senior Investigator
Section on Molecular Dysmorphology
Phone: 301-435-4432
Fax: 301-480-5791

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