David R Beier, MD, PhD

David R Beier,  MD,  PhD

Academic Title: Professor, Pediatrics

Research Title: Director, Center for Developmental Biology and Regenerative Medicine

Research Center: Center for Developmental Biology and Regenerative Medicine

  • Biography

    After my undergraduate education at Harvard University, I obtained my MD and PhD degrees in the Medical Scientist Training Program at the University of Washington, and was an intern in Pediatrics at Seattle Children's Hospital. I returned to Harvard Medical School for post-doctoral training in Dr. Philip Leder's lab, and also pursued clinical training in Medical Genetics. I joined the faculty of the HMS Dept. of Medicine in 1990 and became Professor in 2005.In 2012 I returned to Seattle as a Professor in Pediatrics and as the Director of the Center for Developmental Biology and Regenerative Medicine at the Seattle Children's Research Institute.

    My research has focused primarily on the use of genetic analysis in model systems as a means to understand human biology and disease. My efforts have provided insight into basic developmental processes, and have led to the identification of a number of human disease genes.

    My research is consistently forward looking, with the aim of marrying enabling genomic technology with innovative strategies of genetic analysis. I have endeavored to make these approaches accessible, and have led a number of community initiatives.

    • Related Pages

    • Beier Lab

      The Beier Lab uses genetic analysis in model systems as a means to understand human biology and disease, and identifies genes that contribute to human disease and developmental abnormalities.

  • Patient Testimonials
  • Publications

    Other Publications

    • Jamet S, Ha S, Ho TH, Houghtaling S, Timms A, Yu K, Paquette A, Maga AM, Greene NDE, Beier DR
      The arginine methyltransferase Carm1 is necessary for heart development.
      G3 (Bethesda), 2022 Jul 29 : 12(8)jkac155
    • Okamura DM, Brewer CM, Wakenight P, Bahrami N, Bernardi K, Tran A, Olson J, Shi X, Yeh SY, Piliponsky A, Collins SJ, Nguyen ED, Timms AE, MacDonald JW, Bammler TK, Nelson BR, Millen KJ, Beier DR, Majesky MW
      Spiny mice activate unique transcriptional programs after severe kidney injury regenerating organ function without fibrosis.
      iScience, 2021 Nov 3 : 24(11)103269
    • Ha S, Tripathi PP, Daza RA, Hevner RF, Beier DR
      Reelin Mediates Hippocampal Cajal-Retzius Cell Positioning and Infrapyramidal Blade Morphogenesis.
      J Dev Biol, 2020 Sep 18 : 8(3)E20
    • Geister KA, Lopez-Jimenez AJ, Houghtaling S, Ho TH, Vanacore R, Beier DR
      Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects.
      Dis Model Mech, 2019 : 12(6)
    • Geister KA, Timms AE, Beier DR
      Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice.
      29208648 G3 (Bethesda, Md.), 2018 Feb 2 : 8(2)401-409 PMCID:PMC5919724
    • Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR
      Estimating the selective effects of heterozygous protein-truncating variants from human exome data.
      28369035 Nature genetics, 2017 May : 49(5)806-810 PMCID:PMC5618255
    • Ha S, Tripathi PP, Mihalas AB, Hevner RF, Beier DR
      C-Terminal Region Truncation of RELN Disrupts an Interaction with VLDLR, Causing Abnormal Development of the Cerebral Cortex and Hippocampus.
      28123028 The Journal of neuroscience : the official journal of the Society for Neuroscience, 2017 Jan 25 : 37(4)960-971 PMCID:PMC5296787
    • Beier DR
      High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys (jck) mouse model of polycystic kidney disease.
      27114383 Mammalian genome : official journal of the International Mammalian Genome Society, 2016 June : 27(5-6)191-9
    • Husson H, Moreno S, Smith LA, Smith MM, Russo RJ, Pitstick R, Sergeev M, Ledbetter SR, Bukanov NO, Lane M, Zhang K, Billot K, Carlson G, Shah J, Meijer L, Beier DR, Ibraghimov-Beskrovnaya O
      Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis.
      27053712 Human molecular genetics, 2016 Apr 5
    • Gallego-Llamas J, Timms AE, Pitstick R, Peters J, Carlson GA, Beier DR
      Improvement of ENU Mutagenesis Efficiency Using Serial Injection and Mismatch Repair Deficiency Mice.
      27441645 PloS one, 2016 : 11(7)e0159377 PMCID:PMC4956170
    • Gallego-Llamas J, Timms AE, Geister KA, Lindsay A, Beier DR
      Variant mapping and mutation discovery in inbred mice using next-generation sequencing.
      26552429 BMC genomics, 2015 Nov 9 : 16913 PMCID:PMC4640199
    • Ha S, Stottmann RW, Furley AJ, Beier DR
      A forward genetic screen in mice identifies mutants with abnormal cortical patterning.
      23968836 Cerebral cortex (New York, N.Y. : 1991), 2015 Jan. : 25(1)167-79 PMCID:PMC4259276
    • Tran PV, Talbott GC, Turbe-Doan A, Jacobs DT, Schonfeld MP, Silva LM, Chatterjee A, Prysak M, Allard BA, Beier DR
      Downregulating hedgehog signaling reduces renal cystogenic potential of mouse models.
      24700869 Journal of the American Society of Nephrology : JASN, 2014 Oct. : 25(10)2201-12 PMCID:PMC4178433
    • Stottmann R, Beier D
      ENU mutagenesis in the mouse.
      25723916 Current protocols in mouse biology, 2014 Jun 16 : 4(2)25-35
    • Stottmann RW, Donlin M, Hafner A, Bernard A, Sinclair DA, Beier DR.
      A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.
      Hum Mol Genet, 2013 Oct 15 : 22(20)4053-63
    • Manning DK, Sergeev M, van Heesbeen RG, Wong MD, Oh JH, Liu Y, Henkelman RM, Drummond I, Shah JV, Beier DR
      Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.
      23274954 Journal of the American Society of Nephrology : JASN, 2013 Jan. : 24(1)100-12 PMCID:PMC3537214
    • Leshchiner I, Alexa K, Kelsey P, Adzhubei I, Austin-Tse CA, Cooney JD, Anderson H, King MJ, Stottmann RW, Garnaas MK, Ha S, Drummond IA, Paw BH, North TE, Beier DR, Goessling W, Sunyaev SR
      Mutation mapping and identification by whole-genome sequencing.
      22555591 Genome research, 2012 Aug. : 22(8)1541-8 PMCID:PMC3409267
    • Stottmann RW, Turbe-Doan A, Tran P, Kratz LE, Moran JL, Kelley RI, Beier DR
      Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.
      21912524 PLoS genetics, 2011 Sept. : 7(9)e1002224 PMCID:PMC3164675
    • Cozzi E, Ackerman KG, Lundequist A, Drazen JM, Boyce JA, Beier DR
      The naive airway hyperresponsiveness of the A/J mouse is Kit-mediated.
      21768379 Proceedings of the National Academy of Sciences of the United States of America, 2011 Aug 2 : 108(31)12787-92 PMCID:PMC3150901
    • R.W. Stottmann RW, Moran JL, Turbe-Doan A, Driver E, Kelley M, Beier DR
      Focusing forward genetics: A tri-partite ENU screen for neurodevelopmental mutations in the mouse
      Genetics, 2011 : 188615-24
    • Dwyer ND, Manning DK, Moran JL, Mudbhary R, Fleming MS, Favero CB, Vock VM, O'Leary DD, Walsh CA, Beier DR
      A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype.
      21214893 Neural development, 2011 Jan 7 : 63 PMCID:PMC3024922
    • Kamp A, Peterson MA, Svenson KL, Bjork BC, Hentges KE, Rajapaksha TW, Moran J, Justice MJ, Seidman JG, Seidman CE, Moskowitz IP, Beier DR
      Genome-wide identification of mouse congenital heart disease loci.
      20511334 Human molecular genetics, 2010 Aug 15 : 19(16)3105-13 PMCID:PMC2908466
    • Bjork BC, Turbe-Doan A, Prysak M, Herron BJ, Beier DR
      Prdm16 is required for normal palatogenesis in mice.
      20007998 Human molecular genetics, 2010 Mar 1 : 19(5)774-89 PMCID:PMC2816611
    • Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR
      Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
      20089971 The New England journal of medicine, 2010 Jan 21 : 362(3)206-16 PMCID:PMC3108191
    • Stottmann RW, Tran PV, Turbe-Doan A, Beier DR
      Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain.
      Dev Biol, 2009 : (335)166-78
    • Seale P, Bjork B, Yang W, Kajimura S, Chin S, Kuang S, Scimè A, Devarakonda S, Conroe HM, Erdjument-Bromage H, Tempst P, Rudnicki MA, Beier DR, Spiegelman BM
      PRDM16 controls a brown fat/skeletal muscle switch.
      18719582 Nature, 2008 Aug 21 : 454(7207)961-7 PMCID:PMC2583329
    • Tran PV, Haycraft CJ, Besschetnova TY, Turbe-Doan A, Stottmann RW, Herron BJ, Chesebro AL, Qiu H, Scherz PJ, Shah JV, Yoder BK, Beier DR
      THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia.
      18327258 Nature genetics, 2008 April : 40(4)403-410 PMCID:PMC4817720
    • Ackerman KG, Wang J, Luo L, Fujiwara Y, Orkin SH, Beier DR
      Gata4 is necessary for normal pulmonary lobar development.
      17142311 American journal of respiratory cell and molecular biology, 2007 April : 36(4)391-7 PMCID:PMC1899327
    • Moran JL, Bolton AD, Tran PV, Brown A, Dwyer ND, Manning DK, Bjork BC, Li C, Montgomery K, Siepka SM, Vitaterna MH, Takahashi JS, Wiltshire T, Kwiatkowski DJ, Kucherlapati R, Beier DR
      Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse.
      16461637 Genome research, 2006 March : 16(3)436-40 PMCID:PMC1415208
    • Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR
      Fog2 is required for normal diaphragm and lung development in mice and humans.
      16103912 PLoS genetics, 2005 July : 1(1)58-65 PMCID:PMC1183529
    • Ackerman KG, Huang H, Grasemann H, Puma C, Singer JB, Hill AE, Lander E, Nadeau JH, Churchill GA, Drazen JM, Beier DR
      Interacting genetic loci cause airway hyperresponsiveness.
      15657107 Physiological genomics, 2005 Mar 21 : 21(1)105-11
    • Rao C, Foernzler D, Loftus SK, Liu S, McPherson JD, Jungers KA, Apte SS, Pavan WJ, Beier DR
      A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation.
      12925592 Development (Cambridge, England), 2003 Oct. : 130(19)4665-72
    • Liu S, Lu W, Obara T, Kuida S, Lehoczky J, Dewar K, Drummond IA, Beier DR
      A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish.
      12421721 Development (Cambridge, England), 2002 Dec. : 129(24)5839-46
    • Herron BJ, Lu W, Rao C, Liu S, Peters H, Bronson RT, Justice MJ, McDonald JD, Beier DR
      Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis.
      11818962 Nature genetics, 2002 Feb. : 30(2)185-9
    • Kuida S and Beier DR
      Genetic localization of interacting modifiers affecting severity in a murine model of polycystic kidney disease.
      Genome Research, 2000 : (10)49-54
    • Beier DR
      Sequence-based analysis of mutagenized mice.
      Mamm Genome, 2000 : (11)594-7
    • Förnzler D, Her H, Knapik EW, Clark M, Lehrach H, Postlethwait JM, Zon LI, Beier DR
      Gene mapping in zebrafish using single-strand conformation polymorphism (SSCP) analysis.
      Genomics, 1998 : (51)216-22
    • Brady KP, Rowe LB, Her H, Stevens TJ, Eppig J, Sussman DJ, Sikela J, Beier DR
      Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism (SSCP) analysis.
      Genome Res , 1997 : (7)1085-93
    • Beier DR
      Single-strand conformation polymorphism (SSCP) analysis as a tool for genetic mapping.
      Mamm Genome, 1993 : (4)627-31
    • Shultz LD, Schweitzer PA, Rajan TV, Yi T, Ihle JN, Matthews RJ, Thomas ML, Beier DR
      Mutations at the murine "motheaten" locus are within the hematopoietic cell protein tyrosine phosphatase (Hcph) gene.
      Cell, 1993 : (73)1445-1454
    • Beier DR, Dushkin H, Sussman DJ
      Mapping genes in the mouse using single-strand conformation polymorphism analysis of recombinant inbred strains and interspecific crosses.
      Proc Natl Acad Sci USA, 1992 : (89)9102-06
    • Huang E, Nocka K, Beier DR, Chu TY, Buck J, Lahm HW, Wellner D, Leder P, Besmer P
      The hematopoietic growth factor KL is encoded by the Steel locus and is the ligand of the c-kit receptor, the gene product of the W locus.
      Cell, 1990 : (63)225-233
    • Beier DR and Young ET
      Characterization of a regulatory region upstream of the ADR2 locus of S. cerevisiae.
      Nature, 1982 : (300)724-28