Robert D. Steiner, MD

Rare disorders studied

• Smith-Lemli-Opitz syndrome
•  Mevalonate kinase deficiency/HIDS
• Cerebrotendinous xanthomatosis
• Osteogenesis imperfecta
• Neuronal ceroid lipofuscinosis
• Phenylketonuria

Biographical information

Robert Steiner received his medical degree from the University of Wisconsin Medical School in Madison.  Dr. Steiner completed his residency in pediatrics at Children’s Hospital Medical Center and the University of Cincinnati and  fellowship in medical genetics at the University of Washington. He did additional training in clinical investigation through the OHSU NIH-sponsored Human Investigations Program.  Dr. Steiner is a Professor in Pediatrics and Molecular and Medical Genetics at  OHSU.  He also currently serves as a deputy director of the Oregon Clinical and Translational Research Institute and Vice Chair for Research in the Department of Pediatrics. 

Research interests

The Smith Lemli Opitz syndrome (SLOS) is a genetic syndrome associated with mental retardation and birth defects, caused by a defect in cholesterol synthesis. Affected individuals have low cholesterol levels and elevated levels of cholesterol precursors. SLOS is a natural model of cholesterol synthetic defects, and understanding this condition at the biochemical and molecular level will advance our knowledge of cholesterol metabolism in general. The Steiner lab group carriesout clinical and translational research relating to disorders of cholesterol synthesis.  Together with our collaborators at the NIH, we (along with 2 other groups simultaneously) identified mutations in the 7-dehydrocholesterol delta 7 reductase gene as the cause of SLOS. We are currently involved in identification of mutations in the gene in a number of patients. These studies will allow determination of genotype/phenotype correlations in SLOS. In addition, we are measuring sterol synthesis in cultured fibroblasts of SLOS patients. With this in vitro model, possible treatment modalities such as the use of HMG CoA reductase inhibitors can be studied in cell culture prior to their application in patients. Finally, our newest research area is devoted to delivering cholesterol to the brain.  We plan both animal and human studies in that regard.  In summary, our lab focuses on elucidation of the molecular and biochemical basis of cholesterol synthesis disorders and novel approaches to their treatment.

Rare disorders activities

• Co-Chair, NIH CTSA CC-CHOS Rare Disease Workgroup 2006-2009
• Standing committee member, HRSA/ACMG Newborn Screening Translational Research Network 2009-present
• Member, organizing committee for the NIH/ORD "Conference on Clinical Research for Rare Diseases" 2010.  Charge:  draft the R13 NIH Grant Application (renewal) and provide oversight for the conference (2009)
• Member, Institute of Medicine (IOM) Committee on Accelerating Rare Diseases Research and Orphan Product Development 2009-2011
• Member, medical advisory board, Smith-Lemli-Opitz/RSH Foundation
• Grant reviewer (volunteer), Parents of Galactosemic Children Research Committee
• Co-host SLOS/RSH Foundation National Conference 2007

Online reviews and articles of interest

• American College of Medical Genetics Newborn Screening Expert Group. Newborn  Screening: Toward a Uniform Screening Panel and System--Executive Summary. Pediatrics. 2006;117:S296-S307.
•  Pappu AS, Connor WE, Merkens LM, Jordan JM, Penfield JA, Illingworth DR, Steiner RD, Increased non-sterol isoprenoids, dolichol and ubiquionone in the Smith-Lemli-Opitz Syndrome: effects of dietary cholesterol.  J. Lipid Res. 47:2789-2798, 2006.
• Christ SE, Steiner RD, Grange DK, Abrams RA, White DA. Inhibitory control in children with phenylketonuria. Dev Neuropsychol. 30:845-64, 2006.
• Hager EJ, Tse HM, Piganelli JD, Gupta M, Baetscher M, Tse TE, Pappu AS, SteinerRD, Hoffmann GF, Gibson KM.  Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome.  J Inherit Metab Dis. 2007 Nov 19.
• Sikora DM, Pettit-Kekel K, Penfield J, Merkens L, Steiner RD, The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.  Am J Med Genet A. 140A:1511-1518, 2006.