Section on Molecular Dysmorphology
Forbes Porter, Section Head
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 Smith-Lemli-Opitz syndrome (SLOS). The group 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, Dr. Porter’s group received a Bench-to-Bedside award to investigate the role of impaired glycosphingolipid transport in SLOS. This group 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 this group has initiated a clinical study of patients with Niemann-Pick disease, type C (NPC). NPC is a neurodegenerative disorder due to impaired intracellular transport of cholesterol and glycosphingolipids. This new 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.