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.