Robert D. Steiner, MD

Education

BS, University of Wisconsin–Madison, Madison, Wisconsin
MD, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin
Residency, Pediatrics, Cincinnati Children’s Hospital, Cincinnati, Ohio
Fellowship, Clinical Genetics and Clinical Biochemical Genetics, University of Washington, Seattle, Washington 

Professional Activities

Dr. Robert D. Steiner is a clinical professor in the Division of Genetics and Metabolism. Regionally, he is the Medical Director of Newborn Screening for Wisconsin’s Department of Health Services. Nationally, he serves as editor-in-chief of Genetics in Medicine, an official journal of the American College of Genetics and Genomics (ACMG); he also serves on the ACMG board of directors. In addition, Steiner has been the Chief Medical Officer of a biotech start-up, director of a biomedical research institute, and Chief Medical Officer of a genetic diagnostic testing company. Author or co-author of more than 200 peer-reviewed original research articles, Steiner has also contributed to more than 100 books, reviews, book chapters, and letters on pediatrics, rare diseases, genetic diseases and genetic testing.

Clinical Interests

Steiner is a physician-scientist interested in metabolic bone diseases, inherited metabolic diseases, genetic testing, and newborn screening. He has longstanding clinical interests in phenylketonuria (PKU), Smith-Lemli-Opitz syndrome, cerebrotendinous xanthomatosis, and lysosomal storage diseases. His current clinical practice is focused on pediatric metabolic bone diseases, including osteogenesis Imperfecta, cystinosis, fibrodysplasia ossificans progressiva, hypophosphatemic rickets, hypophosphatasia, and osteopetrosis among others.

Research Interests

Steiner is a translational researcher with specific interests in PKU, neuronal ceroid lipofuscinosis (NCL), Smith Lemli Opitz Syndrome, and cerebrotendinous xanthomatosis. He is also part of a research team that is a member of the NIH-funded Impact of Genomic Variation on Function (IGVF) Consortium.