Robert Steiner Lab
The Steiner Lab studies rare genetic disorders in which the body cannot properly synthesize or process cholesterol. These disorders are caused by defects in the enzymes involved in the biochemical pathways that either synthesize, transport cholesterol or convert cholesterol into bile acids.
The most common human disorder of cholesterol synthesis is Smith-Lemli-Opitz syndrome(SLOS). SLOS is due to a mutation in the 7-dehydrocholesterolΔ7reductase gene (DHCR7) encoding the final enzyme in the cholesterol synthesis pathway. This disorder is associated with mental retardation and birth defects. SLOS is characterized by low cholesterol concentrations and elevated concentrations of cholesterol precursors, in particular 7-dehycrocholesterol (7DHC). The current research in SLOS is to correlate biochemical and clinical characteristics, and whole body accretion with cholesterol dietary intake, cholesterol absorption and cholesterol synthesis. Children receiving dietary cholesterol supplementation and those receiving dietary supplementation with simvastatin will be evaluated.
Dr. Steiner is also principal investigator of a new multicenter grant to investigate several related disorders: Sterol and Isoprenoid Research Consortium, (STAIR), as a Rare Disease Clinical Research Consortium (RDCRC), for the Rare Disease Clinical Research Network (RDCRN). STAIR institutions include Oregon Health & Science University (OHSU) (Robert Steiner/Jean-Baptiste Roullet), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (Forbes D. Porter), Children’s Hospital of Pittsburgh of University of Pittsburgh Medical Center (Jerry Vockley with subcontract to /Michael Gibson at Michigan Tech University), Cincinnati Children’s Hospital Medical Center (CCHMC)/University of Cincinnati Medical Center (UCMC) (James Heubi/Laura Woollett) and the University of Nebraska Medical Center (UNMC) (William Rizzo). In addition, Peter Jones, University of Manitoba, will participate as Core Lab Director. OHSU is the administrative home of STAIR. The RDCRN was created to: “facilitate collaboration among experts in many different types of rare diseases. Our goals are to contribute to the research and treatment of rare diseases by working together to identify biomarkers for disease risk, disease severity and activity, and clinical outcome, while also encouraging development of new approaches to diagnosis, prevention, and treatment” (http://rarediseasesnetwork.epi.usf.edu/stair/index.htm).
