Profile

Michael J. Bamshad, MD

Michael J. Bamshad, MD

Genetics

On staff since January 2006

Children's Title: Division Chief; Allan and Phyllis Treuer Endowed Chair in Genetics and Development

Academic Title: Professor

Research Center: Center for Clinical and Translational Research

Michael J. Bamshad, MD, is professor in the Department of Pediatrics and adjunct professor of genome sciences at the University of Washington. His 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.

 Bamshad is 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.  His laboratory has identified genetic variants that underlie several disorders manifested by either limb defects or heart defects.  Bamshad’s lab has 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 his 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.

Making A Difference

  • Mentoring Talented Junior Faculty

    An academic medical center and research institute, Seattle Children’s is dedicated to helping junior faculty establish research careers. Recently, several of our emerging genetics researchers have made significant contributions to their field. ... cont.

Overview

Board Certification(s)

Clinical Genetics (MD)

Medical/Professional School

University of Missouri - Kansas City, Kansas City
University of Kansas, Lawrence, Medical Genetics

Residency

Pediatrics, University of Utah Medical Center, Salt Lake City

Fellowship

Medical Genetics, University of Utah School of Medicine, Salt Lake City

Clinical Interests

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.

Research Description

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.

Research Focus Area

Translational Research, Genetics and Developmental Biology

Awards and Honors

Award Name Award Description Awarded By Award Date
Bea Fowlow Award in Medical Genetics University of Calgary 2011

Publications

  • Nelsen LM, Shields KE, Cunningham ML, Stoler JM, Bamshad MJ, Eng PM, Smugar SS, Gould AL, Philip G
    Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications.
    The Journal of allergy and clinical immunology , 2012 Jan. : 251-4.e1-6
  • Tabor HK, Berkman BE, Hull SC, Bamshad MJ
    Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research.
    American journal of medical genetics. Part A , 2011 Dec. : 2916-24
  • Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J
    Exome sequencing as a tool for Mendelian disease gene discovery.
    Nature reviews. Genetics , 2011 Sept. 27 : 745-55
  • Tennessen JA, O'Connor TD, Bamshad MJ, Akey JM
    The promise and limitations of population exomics for human evolution studies.
    Genome biology , 2011 Sept. 14 : 127
  • Weymouth KS, Blanton SH, Bamshad MJ, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs MB, Barnes D, Mitchell LE, Hecht JT
    Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
    American journal of medical genetics. Part A , 2011 Sept. : 2170-9
  • Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, de Condor BJ, Schweiger MR, Robinson PN
    Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.
    Bioinformatics (Oxford, England) , 2011 Mar. 15 : 829-36
  • Bigham AW, Buckingham KJ, Husain S, Emond MJ, Bofferding KM, Gildersleeve H, Rutherford A, Astakhova NM, Perelygin AA, Busch MP, Murray KO, Sejvar JJ, Green S, Kriesel J, Brinton MA, Bamshad M
    Host genetic risk factors for West Nile virus infection and disease progression.
    PloS one , 2011 : e24745
  • Michael J. Bamshad, MD
    Clinical Genetics and Dysmorphology in Rudolph's Textbook of Pediatrics, 22st edition, McGraw Hill
  • Ng SB, Nickerson DA, Bamshad MJ, Shendure J
    Massively parallel sequencing and rare disease.
    Human molecular genetics , 2010 Oct. 15 : R119-24
  • Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J
    Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
    Nature genetics , 2010 Sept. : 790-3
  • Illeperuma RJ, Markalanda D, Mountain JL, Ratnasooriya WD, Fernandopulle ND, Bamshad MJ
    Haplotype data for 12 Y-chromosome STR loci of Sri Lankans.
    Forensic science international. Genetics , 2010 July : e119-20
  • Royal CD, Novembre J, Fullerton SM, Goldstein DB, Long JC, Bamshad MJ, Clark AG
    Inferring genetic ancestry: opportunities, challenges, and implications.
    American journal of human genetics , 2010 May 14 : 661-73
  • Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ
    Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
    Science (New York, N.Y.) , 2010 Apr, 30 : 636-9
  • Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA
    Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
    Nature methods , 2010 Apr, : 250-1
  • Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA
    Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
    Nature methods , 2010 Apr, : 250-1
  • Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ
    Exome sequencing identifies the cause of a mendelian disorder.
    Nature genetics , 2010 Jan. : 30-5
  • Xing J, Watkins WS, Hu Y, Huff CD, Sabo A, Muzny DM, Bamshad MJ, Gibbs RA, Jorde LB, Yu F
    Genetic diversity in India and the inference of Eurasian population expansion.
    Genome biology , 2010 : R113
  • Michael J. Bamshad, MD
    Medical Genetics, 4th edition
  • Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ
    Exome sequencing identifies the cause of a mendelian disorder.
    Nature genetics , 2010 Jan. : 30-5
  • He W, Kulkarni H, Castiblanco J, Shimizu C, Aluyen U, Maldonado R, Carrillo A, Griffin M, Lipsitt A, Beachy L, Shostakovich-Koretskaya L, Mangano A, Sen L, Nibbs RJ, Tiemessen CT, Bolivar H, Bamshad MJ, Clark RA, Burns JC, Dolan MJ, Ahuja SK
    Reply to: "Experimental aspects of copy number variant assays at CCL3L1".
    Nature medicine , 2009 Oct. : 1117-20
  • Toydemir RM, Bamshad MJ
    Sheldon-Hall syndrome.
    Orphanet journal of rare diseases , 2009 Mar. 23 : 11
  • Prahalad S, Bohnsack JF, Whiting A, Clifford B, Jorde LB, Guthery SL, Thompson SD, Glass DN, Bamshad MJ
    Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis.
    Arthritis and rheumatism , 2008 July : 2147-52
  • Borozdin W, Graham JM Jr, Böhm D, Bamshad MJ, Spranger S, Burke L, Leipoldt M, Kohlhase J
    Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.
    Human mutation , 2007 Aug. : 830
  • Williams MS, Elliott CG, Bamshad MJ
    Pulmonary disease is a component of distal arthrogryposis type 5.
    American journal of medical genetics. Part A , 2007 Apr, 1 : 752-6
  • Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ
    Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
    American journal of medical genetics. Part A , 2006 Nov. 15 : 2387-93
  • Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ
    A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
    American journal of human genetics , 2006 Nov. : 935-41
  • Bleyl SB, Botto LD, Carey JC, Young LT, Bamshad MJ, Leppert MF, Ward K
    Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12.
    American journal of medical genetics. Part A , 2006 Nov. 1 : 2368-73
  • Borozdin W, Bravo-Ferrer Acosta AM, Seemanova E, Leipoldt M, Bamshad MJ, Unger S, Kohlhase J
    Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
    American journal of medical genetics. Part A , 2006 Sept. 1 : 1880-6
  • Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J
    Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.
    Human mutation , 2006 Sept. : 975-6
  • Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE
    Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.
    American journal of medical genetics. Part A , 2006 July 1 : 1375-83
  • Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ
    Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
    Nature genetics , 2006 May : 561-5
  • Wooding S, Bufe B, Grassi C, Howard MT, Stone AC, Vazquez M, Dunn DM, Meyerhof W, Weiss RB, Bamshad MJ
    Independent evolution of bitter-taste sensitivity in humans and chimpanzees.
    Nature , 2006 Apr, 13 : 930-4
  • Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ
    Clinical characteristics and natural history of Freeman-Sheldon syndrome.
    Pediatrics , 2006 Mar. : 754-62
  • Shriver MD, Mei R, Parra EJ, Sonpar V, Halder I, Tishkoff SA, Schurr TG, Zhadanov SI, Osipova LP, Brutsaert TD, Friedlaender J, Jorde LB, Watkins WS, Bamshad MJ, Gutierrez G, Loi H, Matsuzaki H, Kittles RA, Argyropoulos G, Fernandez JR, Akey JM, Jones KW
    Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation.
    Human genomics , 2005 June : 81-9
  • Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG
    Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
    American journal of human genetics , 2005 Apr, : 609-22
  • Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, Quinones MP, Bamshad MJ, Murthy KK, Rovin BH, Bradley W, Clark RA, Anderson SA, O'connell RJ, Agan BK, Ahuja SS, Bologna R, Sen L, Dolan MJ, Ahuja SK
    The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.
    Science (New York, N.Y.) , 2005 Mar. 4 : 1434-40
  • Wooding S, Stone AC, Dunn DM, Mummidi S, Jorde LB, Weiss RK, Ahuja S, Bamshad MJ
    Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5.
    American journal of human genetics , 2005 Feb. : 291-301
  • Prahalad S, O'brien E, Fraser AM, Kerber RA, Mineau GP, Pratt D, Donaldson D, Bamshad MJ, Bohnsack J
    Familial aggregation of juvenile idiopathic arthritis.
    Arthritis and rheumatism , 2004 Dec. : 4022-7
  • Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T
    NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
    Nature genetics , 2004 June : 636-41
  • Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG
    Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
    Nature genetics , 2004 June : 631-5
  • Wooding S, Kim UK, Bamshad MJ, Larsen J, Jorde LB, Drayna D
    Natural selection and molecular evolution in PTC, a bitter-taste receptor gene.
    American journal of human genetics , 2004 Apr, : 637-46
  • Bamshad MJ, Olson SE
    Does race exist?
    Scientific American , 2003 Dec. : 78-85
  • Callinan PA, Hedges DJ, Salem AH, Xing J, Walker JA, Garber RK, Watkins WS, Bamshad MJ, Jorde LB, Batzer MA
    Comprehensive analysis of Alu-associated diversity on the human sex chromosomes.
    Gene , 2003 Oct. 23 : 103-10
  • de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE
    A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
    Human molecular genetics , 2003 Aug. 15 : 1959-71
  • Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ
    Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
    American journal of human genetics , 2003 July : 74-85
  • Watkins WS, Rogers AR, Ostler CT, Wooding S, Bamshad MJ, Brassington AM, Carroll ML, Nguyen SV, Walker JA, Prasad BV, Reddy PG, Das PK, Batzer MA, Jorde LB
    Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms.
    Genome research , 2003 July : 1607-18
  • Bamshad MJ, Wooding S, Watkins WS, Ostler CT, Batzer MA, Jorde LB
    Human population genetic structure and inference of group membership.
    American journal of human genetics , 2003 Mar. : 578-89
  • Gonzalez E, Rovin BH, Sen L, Cooke G, Dhanda R, Mummidi S, Kulkarni H, Bamshad MJ, Telles V, Anderson SA, Walter EA, Stephan KT, Deucher M, Mangano A, Bologna R, Ahuja SS, Dolan MJ, Ahuja SK
    HIV-1 infection and AIDS dementia are influenced by a mutant MCP-1 allele linked to increased monocyte infiltration of tissues and MCP-1 levels.
    Proceedings of the National Academy of Sciences of the United States of America , 2002 Oct. 15 : 13795-800
  • Bamshad MJ, Mummidi S, Gonzalez E, Ahuja SS, Dunn DM, Watkins WS, Wooding S, Stone AC, Jorde LB, Weiss RB, Ahuja SK
    A strong signature of balancing selection in the 5' cis-regulatory region of CCR5.
    Proceedings of the National Academy of Sciences of the United States of America , 2002 Aug. 6 : 10539-44

Presentations

Presentations Title Event Location Date
Exome sequencing as a tool for gene discovery Canadian Human Genetics Conference, Banff, Canada 2011
Exome sequencing as a tool for gene discovery New England Regional Genetics Group Regional Genetics Counseling Conference Boston, MA 2011
Exome sequencing as a tool for gene discovery Manton Center for Orphan Disease Research Harvard Medical School, Boston MA 2011
Exome sequencing brings the genome to the clinic Association of Medical School Pediatric Department Chairs, Inc./Frontiers in Science/Pediatric Scientist Development Program Annual Meeting, Tampa Bay, FL 2010
Race, ancestry, and genomics The Evolution of Human Biodiversity, The Salk Institute, La Jolla, CA 2010
Mendelian Genetics by exome sequencing Annual Human and Molecular Genetics Symposium, The University of Texas Graduate School of Biomedical Sciences at Houston, Houston, TX 2010
Discovery of a gene for kabuki syndrome by exome sequencing and genotype-phenotype relationship in 110 cases 55th Annual Meeting of the Japanese Society of Human Genetics, Omiya Sonic City, Japan 2010
Distal arthrogryposis: genetic and molecular basis Australian Health and Medical Research Congress, Melbourne, Australia 2010
Mendelian Genetics by exome sequencing Australian Health and Medical Research Congress, Melbourne, Australia 2010

Research Funding

Grant Title Grantor Amount Award Date
UW Center for Mendelian Genomics NIH Dec. 5, 2011 - Nov. 30, 2015
Developing Capacity for Genomic the National Childrens Study: Genomics and Epigenomics and Ancestry NIH/NICHD Dec. 1, 2010 - Sept. 27, 2012
Developing Capacity for Genomic Medicine for the National Childrens Study NIH/NICHD Dec. 1, 2010 - Sept. 27, 2012
Building a Unique National Community Based Twin Repository NIH/NHLBI Sept. 30, 2009 - July 31, 2012
Northwest Genomics Center NIH/NHLBI Sept. 30, 2009 - June 30, 2012
NHLBI Lung Cohorts Sequencing Project NIH/NHLBI Sept. 30, 2009 - Aug. 31, 2012
Northwest Institute of Genetic Medicine Life Sciences Discovery Fund Sept. 3, 2008 - Sept. 2, 2012
Institute of Translational Health Sciences NIH/MCRR Sept. 17, 2007 - May 31, 2012
Genetic and Molecular Basis of Congenital Contractures NIH Feb. 1, 2005 - Jan. 31, 2013
Utah Center for Birth Defects Research and Prevention CDC Feb. 1, 2005 - Nov. 30, 2012