Steven Mumm, PhD

Dr. Steven Mumm received his PhD in Cell and Molecular Biology from Saint Louis University, St. Louis, MO, in 1992. He was trained in the Markey Pathway in Human Pathobiology and had additional post-doctoral training in the Human Genome Project at Washington University School of Medicine. Dr. Mumm’s research focuses on the molecular genetics of metabolic bone diseases and skeletal dysplasias, in conjunction with Dr. Michael Whyte, who manages the clinical aspects of these research endeavors. Current investigation includes high bone turnover diseases associated with RANK signaling, modifier gene effects involved in phosphorus homeostasis, and genetic predisposition to atypical femoral fractures associated with long-term bisphosphonate therapy for osteoporosis.

Editorial Responsibilities

• Editorial Board member: Acta Medica Mediterranea
• Reviewer: American Journal of Human Genetics, American Journal of Medical Genetics, Annals of Human Genetics, Calcified Tissue International, European Journal of Human Genetics, Gene, Genomics, Human Molecular Genetics, Journal of Biological Chemistry, Journal of Bone and Mineral Research, Journal of Clinical Endocrinology and Metabolism, Journal of Molecular Diagnostics, Journal of Musculoskeletal Medicine, Kidney, Kidney International, Molecular Genetics and Metabolism, PharmacoGenomics, and others.

Professional Societies and Organizations

• American Society for Bone and Mineral Research
• American Society for Human Genetics
• American Society for Microbiology

Recognition

• Who’s Who in Medicine and Healthcare, 2006-2009, 2009-2010
• Who’s Who in America, 2005-2010
• Five-Year Service Award, National Science Foundation Research Mentor Program – Students and Teachers as Research Scientists (STARS), 2006
• Who’s Who in American Education, 2006
• Shriners Hospitals for Children Fellow, 1995-1997
• Lucille P. Markey Postdoctoral Fellow, Washington University School of Medicine, 1992-1994

Research Interests

The focus of Dr. Mumm’s research is molecular genetics of heritable metabolic bone diseases and skeletal dysplasias. A wide variety of these bone diseases studied include hypophosphatasia (caused by mutations in the tissue non-specific alkaline phosphatase gene, (TNSALP), juvenile Paget’s disease (osteoprotegerin gene, TNFRSF11B), familial Paget’s disease (sequestosome 1, SQSTM1), familial expansile osteolysis (RANK gene, TNFRSF11A), Camurati-Engelmann disease (TGFB1), high bone mass disease (LRP5), hypophosphatemic rickets (PHEX, DMP1, FGF23), and many others. We are also studying several families with unique bone diseases where the genetic defect is still unknown; in these cases, we are using linkage analysis and candidate gene studies to identify the defective genes.

Publications

• Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP. Deactivating Germline Mutations in LEMD3 Cause Osteopoikilosis and Buschke-Ollendorff Syndrome, but Not Sporadic Melorheostosis. J Bone Miner Res. 2007; 22(2): 243-250.
• Whyte MP, Singhellakis PN, Petersen MB, Davies M, Totty WG, Mumm S. Juvenile Paget’s Disease: The Second Reported, Oldest Patient is Homozygous for The TNFRSF11B “Balkan” Mutation (966_969deltgacinsctt), Which Elevates Circulating Immunoreactive Osteoprotegerin Levels. J Bone Miner Res. 2007; 22(6):938-946.
• Whyte MP, Wenkert D, McAlister WH, Mughal Z, Freemont AJ, Whitehouse R, Baildam E, Mumm S. Chronic Recurrent Multifocal Osteomyelitis Mimicked in Childhood Hypophosphatasia. J Bone Miner Res. 2009; 24(8):1493-1505.
• Whyte MP, Wenkert D, McAlister WH, Novack D, Nenninger AR, Zhang X, Huskey M, Mumm S. Dysosteosclerosis Presents as an “Osteoclast-Poor” Form of Osteopetrosis: Comprehensive Investigation of A 3-Year-Old Girl and Literature Review. J Bone Miner Res. 2010 (in press).
• Whyte MP, Totty WH, Novack DV, Zhang X, Wenkert D, Mumm S. Camurati-Engelmann Disease: Unique Variant Featuring a Novel Mutation in TGFß1 Encoding Transforming Growth Factor Beta 1 and a Missense Change in TNFSF11 Encoding RANK Ligand. J Bone Min Res. 2011 (in press).