Robert D Steiner MD FAAP FACMG

Clinical Professor
Division of Genetics and Metabolism
University of Wisconsin School of Medicine and Public Health

Medical Director, Newborn Screening
Wisconsin’s Department of Health Services

Dr. Steiner serves as Editor-in-Chief of Genetics in Medicine,

an official journal of the American College of Medical Genetics and Genomics (ACMG); he also serves on the ACMG board of directors. In addition, Dr. Steiner has held a tenured named professorship at Oregon Health & Science University and has been the Chief Medical Officer of a biotech start-up, director of a biomedical research institute, Chief Scientific Officer of a health system, and Chief Medical Officer of a genetic diagnostic testing company. He is an accomplished physician-scientist, having published nearly 200 peer-reviewed research articles.

Dr. Steiner is a physician-scientist interested in inherited metabolic diseases, neurometabolic disease, metabolic bone diseases, genetic testing, and newborn screening. He has longstanding clinical interests in Smith-Lemli-Opitz syndrome (SLOS), mevalonate kinase deficiency, cerebrotendinous xanthomatosis, phenylketonuria, and lysosomal storage diseases. His current clinical practice is focused on SLOS as well as pediatric metabolic bone diseases, including osteogenesis imperfecta, cystinosis, fibrodysplasia ossificans progressiva, hypophosphatemic rickets, hypophosphatasia and osteopetrosis among others. He is also part of a research team that is a member of the NIH-funded Impact of Genomic Variation on Function Consortium, and co-principal investigator of an NIH-funded study of treatment for infantile neuronal ceroid lipofuscinosis.