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Michael J. Bamshad, MD

Michael J. Bamshad, MD


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(s): Center for Clinical and Translational Research, Center for Genetics and Development

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.


Board Certification(s)
Clinical Genetics (MD)
Medical/Professional School
University of Missouri - Kansas City, Kansas City
University of Kansas, Lawrence, Medical Genetics
Pediatrics, University of Utah Medical Center, Salt Lake City
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 NameAward DescriptionAwarded ByAward Date
Bea Fowlow Award in Medical GeneticsUniversity of Calgary 2011


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
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
Exome sequencing as a tool for Mendelian disease gene discovery.
Nature reviews. Genetics , 2011 Sep 27: 745-55
The promise and limitations of population exomics for human evolution studies.
Genome biology , 2011 Sep 14: 127
Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
American journal of medical genetics. Part A , 2011 Sep: 2170-9
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.
Bioinformatics (Oxford, England) , 2011 Mar 15: 829-36
Clinical Genetics and Dysmorphology in Rudolph's Textbook of Pediatrics, 22st edition, McGraw Hill
, 2011
Host genetic risk factors for West Nile virus infection and disease progression.
PloS one , 2011: e24745
Massively parallel sequencing and rare disease.
Human molecular genetics , 2010 Oct 15: R119-24
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Nature genetics , 2010 Sep: 790-3
Haplotype data for 12 Y-chromosome STR loci of Sri Lankans.
Forensic science international. Genetics , 2010 Jul: e119-20
Inferring genetic ancestry: opportunities, challenges, and implications.
American journal of human genetics , 2010 May 14: 661-73
Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
Science (New York, N.Y.) , 2010 Apr 30: 636-9
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
Nature methods , 2010 Apr: 250-1
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
Nature methods , 2010 Apr: 250-1
Medical Genetics, 4th edition
, 2010
Exome sequencing identifies the cause of a mendelian disorder.
Nature genetics , 2010 Jan: 30-5
Genetic diversity in India and the inference of Eurasian population expansion.
Genome biology , 2010: R113
Exome sequencing identifies the cause of a mendelian disorder.
Nature genetics , 2010 Jan: 30-5
Reply to: "Experimental aspects of copy number variant assays at CCL3L1".
Nature medicine , 2009 Oct: 1117-20
Sheldon-Hall syndrome.
Orphanet journal of rare diseases , 2009 Mar 23: 11
Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis.
Arthritis and rheumatism , 2008 Jul: 2147-52
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
Pulmonary disease is a component of distal arthrogryposis type 5.
American journal of medical genetics. Part A , 2007 Apr 1: 752-6
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
American journal of medical genetics. Part A , 2006 Nov 15: 2387-93
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
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
American journal of human genetics , 2006 Nov: 935-41
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 Sep: 975-6
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 Sep 1: 1880-6
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 Jul 1: 1375-83
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Nature genetics , 2006 May: 561-5
Independent evolution of bitter-taste sensitivity in humans and chimpanzees.
Nature , 2006 Apr 13: 930-4
Clinical characteristics and natural history of Freeman-Sheldon syndrome.
Pediatrics , 2006 Mar: 754-62
Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation.
Human genomics , 2005 Jun: 81-9
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
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.
Science (New York, N.Y.) , 2005 Mar 4: 1434-40
Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5.
American journal of human genetics , 2005 Feb: 291-301
Familial aggregation of juvenile idiopathic arthritis.
Arthritis and rheumatism , 2004 Dec: 4022-7
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Nature genetics , 2004 Jun: 631-5
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 Jun: 636-41
Natural selection and molecular evolution in PTC, a bitter-taste receptor gene.
American journal of human genetics , 2004 Apr: 637-46
Does race exist?
Scientific American , 2003 Dec: 78-85
Comprehensive analysis of Alu-associated diversity on the human sex chromosomes.
Gene , 2003 Oct 23: 103-10
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
Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms.
Genome research , 2003 Jul: 1607-18
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
American journal of human genetics , 2003 Jul: 74-85
Human population genetic structure and inference of group membership.
American journal of human genetics , 2003 Mar: 578-89
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
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 TitleEventLocationDate
Exome sequencing as a tool for gene discoveryManton Center for Orphan Disease ResearchHarvard Medical School, Boston MA 2011
Exome sequencing as a tool for gene discoveryNew England Regional Genetics Group Regional Genetics Counseling ConferenceBoston, MA 2011
Exome sequencing as a tool for gene discoveryCanadian Human Genetics Conference, Banff, Canada 2011
Mendelian Genetics by exome sequencingAustralian Health and Medical Research Congress, Melbourne, Australia 2010
Distal arthrogryposis: genetic and molecular basisAustralian Health and Medical Research Congress, Melbourne, Australia 2010
Discovery of a gene for kabuki syndrome by exome sequencing and genotype-phenotype relationship in 110 cases55th Annual Meeting of the Japanese Society of Human Genetics, Omiya Sonic City, Japan 2010
Mendelian Genetics by exome sequencingAnnual Human and Molecular Genetics Symposium, The University of Texas Graduate School of Biomedical Sciences at Houston, Houston, TX 2010
Race, ancestry, and genomics The Evolution of Human Biodiversity, The Salk Institute, La Jolla, CA 2010
Exome sequencing brings the genome to the clinicAssociation of Medical School Pediatric Department Chairs, Inc./Frontiers in Science/Pediatric Scientist Development Program Annual Meeting, Tampa Bay, FL 2010

Research Funding

Grant TitleGrantorAmountAward Date
UW Center for Mendelian GenomicsNIHDec. 5, 2011 - Nov. 30, 2015
Developing Capacity for Genomic Medicine for the National Childrens StudyNIH/NICHDDec. 1, 2010 - Sept. 27, 2012
Developing Capacity for Genomic the National Childrens Study: Genomics and Epigenomics and AncestryNIH/NICHDDec. 1, 2010 - Sept. 27, 2012
NHLBI Lung Cohorts Sequencing ProjectNIH/NHLBISept. 30, 2009 - Aug. 31, 2012
Northwest Genomics CenterNIH/NHLBISept. 30, 2009 - June 30, 2012
Building a Unique National Community Based Twin RepositoryNIH/NHLBISept. 30, 2009 - July 31, 2012
Northwest Institute of Genetic MedicineLife Sciences Discovery FundSept. 3, 2008 - Sept. 2, 2012
Institute of Translational Health SciencesNIH/MCRRSept. 17, 2007 - May 31, 2012
Utah Center for Birth Defects Research and PreventionCDCFeb. 1, 2005 - Nov. 30, 2012
Genetic and Molecular Basis of Congenital ContracturesNIHFeb. 1, 2005 - Jan. 31, 2013

Primary Office

Seattle Children's
OC.9.850 - Medical Genetics
4800 Sand Point Way NE
Seattle, WA 98105

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