- Medical/Professional School:
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University of Missouri - Kansas City, Kansas City
- Residency:
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University of Utah Medical Center, Salt Lake City, Pediatrics
- Fellowship:
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University of Utah School of Medicine, Salt Lake City, Medical Genetics
- Clinical Interests:
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Genetic analysis of birth defects, especially limb and heart malformation disorders
Genetic analysis of susceptibility to autoimmune disorders and infectious disease as well as human evolutionary biology
- Description of Research:
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My laboratory addresses the origins and affinities of humans, develops novel strategies to find disease susceptibility variants and characterizes genetic variants influencing risk for an assortment of health-related conditions. I am particularly interested in identifying genetic variants that cause birth defects that alter risk for chronic diseases of childhood, infections and preterm birth, and that influence chemosensory perception such as taste.
My laboratory has identified genetic variants that underlie several disorders manifested by either limb defects or heart defects. My lab recently discovered that mutations in several genes (e.g., TNNI2, TNNT3, TPM2, MYH3) that encode proteins of the contractile apparatus of fast-twitch myofibers cause several syndromes characterized by contractures of the feet such as clubfoot.
Researchers in my lab are now trying both to understand the mechanism by which these mutations disrupt muscle function and also to determine whether these genes influence susceptibility to idiopathic clubfoot. Additionally, the development of a DNA core repository for future population studies is ongoing.
- Key Publications:
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Bamshad MJ, Motulsky AG. Health consequences of ecogenetic variation. In: Stearns SC, Koella JC, eds. Evolution in Health and Disease, Second Edition. Oxford, England: Oxford University Press. 2007.
Bevan WB, Hall JG, Bamshad MJ, Staheli LT, Jaffe K, Song K. Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective. J Pediatr Orthop. Jul-Aug 2007;27:594-600.
Borozdin W, Graham JM, Bohm D, Bamshad MJ, Spranger S, Burke L, Olney AH, Leipoldt M, Kohlhase J. Multigene deletions on chromosome 20q13.13-13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay. Hum Mutat. Aug 2007;28(8):830-839.
Guthery SA, Salisbury BA, Pungliya MS, Stephens JC, Bamshad MJ. The structure of common genetic variation in United States populations. Am J Hum Genet. Dec 2007;81(6):1211-1231.
Williams MS, Elliott CG, Bamshad MJ. Pulmonary disease is a component of distal arthrogryposis type 5. Am J Med Genet A. Apr 2007;143(7):752-756.
Bevan WP, Hall JG, Bamshad M, Staheli LT, Jaffe KM, Song KM. Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective. J Pediatr Orthop. Jul-Aug 2007;27(5):594-600.
- Honors & Awards:
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UMKC Scholars Award (1984-88)
Vice President of Alpha Omega Alpha (1988-89); St. Louis Friends of UMKC School of Medicine Basic Science Award (1989)
Lange Award for Outstanding Academic Achievement (1989); Lowell Glasglow Resident Research Award (1994)
Society for Pediatric Research Young Investigator Award (1998)