Donna Martin

Donna Martin, M.D., Ph.D.

Chair, Department of Pediatrics
Ravitz Foundation Endowed Professor of Pediatrics and Communicable Diseases
Donita B. Sullivan Research Professor in Pediatrics
Professor of Human Genetics

8220C MSRB III
1150 W. Medical Center Dr, SPC 5652
Ann Arbor, MI 48109-5652

(734) 647-4859

Areas of Interest

Our laboratory research focuses on the genetic basis of neural development and disorders of human development. Specifically, we study genes predicted to influence neuronal stem cell proliferation, differentiation, and migration.  We are interested in the epigenetic roles of an ATP dependent chromodomain  remodeling gene, CHD7, in the developing inner ear, olfactory system, and central nervous system.  CHD7 pathogenic variants in humans cause CHARGE syndrome,  a congenital anomaly condition that affects the brain, eyes, ears, heart, and craniofacial structures.  We use genetic approaches in mice to study how loss of CHD7 disrupts neuronal and organ development.  We ask how changes gene expression with loss or gain of CHD7 and related chromatin remodelers leads to phenotypic variability and how we can modify CHD7 expression or function in cells and tissues. We also participate in collaborative studies to better understand the genetic mechanisms of autism and other developmental disorders of the nervous system. Our studies impact our understanding of how the nervous system and related organs develop, and how we can design therapies to improve outcomes for people affected by these developmental disorders.

Honors & Awards

  • 2003 Janette Ferrantino Award, Department of Pediatrics, The University of Michigan 
  • 2004 Top 10% Teachers Award, Department of Pediatrics, The University of Michigan
  • 2005 Ad hoc member, Developmental Brain Disorders study section (DBD), National Institutes of Health
  • 2007 Ad hoc member, Neurogenesis and Cell Fate Study Section (NCF), National Institutes of Health
  • 2007 The University of Michigan Hartwell Foundation nominee
  • 2007 The University of Michigan John Merck Scholar nominee
  • 2007, 2012 Best Doctors in America (Detroit Hour Magazine)
  • 2009-2015 Permanent Member, Developmental Brain Disorders (DBD) Study Section, National Institutes of Health
  • 2010 Top Resident Teacher Award, Department of Pediatrics, University of Michigan
  • 2011 Elected Member, The American Society for Clinical Investigation (ASCI)
  • 2014 University of Michigan Medical School League of Research Excellence
  • 2015 Special Recognition Award, International CHARGE Syndrome Foundation
  • 2015-2017 Rudi Ansbacher Women in Academic Medicine Leadership Scholar
  • 2017 “Star in CHARGE” Award, International CHARGE Syndrome Foundation
  • 2018-2021 Scholar, Taubman Institute, Michigan Medicine
  • 2019-2020 Participant, Executive Leadership in Academic Medicine (ELAM)

 

Credentials

  • 8/83-5/87 Michigan Technological University, Houghton, Michigan, B.S. Mathematics/Foreign Language Certificate in German
  • 6/87-6/88 Visiting Student, Universitat Stuttgart, Deutscher Akademischer Austaushdienst
  • 8/88-12/92 The University of Michigan, Ann Arbor, Michigan, Ph.D., Neuroscience
  • 8/92-6/96 The University of Michigan Medical School, Ann Arbor, Michigan, M.D.
  • 8/96-7/97 Intern in Pediatrics, Mott Children's Hospital, The University of Michigan, Ann Arbor, Michigan
  • 8/97-6/99 Resident in Pediatrics, Mott Children's Hospital, The University of Michigan, Ann Arbor, Michigan
  • 7/99-6/01 Medical Genetics Residency, The University of Michigan, Ann Arbor, Michigan

Published Articles or Reviews

2019

Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Jeffrey W. Innis JW, Martin DM. Genotype-Phenotype Analysis of Patients by Genetics Evaluation and Clinical Exome Sequencing. Pediatric Research (2019) Oct 16. [PubMed]

Haijes HA, Koster MJE, Rehmann H, Dong L, Hakonarson H, Cappuccio G, Hancarova M, D. Lehalle, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Thevenon J, Pinelli M, Brunetti-Pierri N, Lopez E, van Essen TAJ, J. Sullivan J, Shashi V, S. Petrovski, Fagerberg C, Martin DM, van Gassen K.L.I., Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM. De novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. American Journal of Human Genetics (2019) Aug 1;105(2):283-301. [PubMed]

Zarate YA, Bosanko K, Caffrey AR, Bernstein JA, Martin DM, et al. Mutation update for the SATB2 gene. Human Mutation (2019) Apr 25 (Epub ahead of print). [PubMed]

Ritter KE, Martin DM. Neural Crest Contributions to the Ear: Implications for Congenital Hearing Disorders. Hearing Research (2019) Nov 14. S0378-5955(18)30414-3. [PubMed]

2018

Durruthy-Durruthy R, Sperry ED, Bowen ME, Attardi LD, Heller S, Martin DM.Single Cell Transcriptomics Reveal Abnormalities in Neurosensory Patterning of the Chd7 Mutant Mouse Ear. Frontiers in Genetics (2018) Oct 23; 9: 473. [PubMed]

Marie C, Clavairoly A, Frah M, Hmidan H, Yan J, Zhao C, Van Steenwinckel J, Daveau R, Zalc B, Hassan B, Thomas JL, Gressens P, Ravassard P, Moszer I, Martin DM, Lu QR, Parras C. Oligodendrocyte Precursor Survival and Differentiation Requires Chromatin Remodeling by Chd7 and Chd8. Proceedings of the National Academy of Science of the U S A (2018) Aug; 115 (35) E8246-E8255. [PubMed]

Martin DM, Rathmell WK, Tavazoie SF. Balancing Dual Demands on the Physician-Scientist Workforce. The Journal of Clinical Investigation (2018) Aug; 128(8): 3204-3205. [PubMed]

Zhao C, Dong C, Frah M, Deng Y, Marie C, Zhang F, Xu L, Ma Z, Dong X, Lin Y, Koenig S, Nait-Oumesmar, B, Martin DM, Wu LN, Xin M, Zhou W, Parras C, Lu QR. Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair. Developmental Cell (2018) Jun; 46 (6): 753-768 e8. [PubMed]

Yao H, Hill SF, Skidmore JM, Sperry ED, Swiderski DL, Sanchez GJ, Bartels CF, Raphael Y, Scacheri PC, Iwase S, Martin DM. CHD7 Represses the Retinoic Acid Synthesis Enzyme ALDH1A3 during Inner Ear Development. JCI Insight (2018) Feb; 3 (4). [PubMed]

Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F, Undiagnosed Diseases Network, Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Genotype-Phenotype Correlations in Individuals with Pathogenic RERE Variants. Human Mutation (2018) May; 39(5): 666-675. [PubMed]

Belanger C, Berube-Simard FA, Leduc E, Bernas G, Campeau PM, Lalani SR, Martin DM, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N. Dysregulation of Cotranscriptional Alternative Splicing underlies CHARGE Syndrome. Proceedings of the National Academy of Science of the U S A (2018) Jan; 115 (4): E620-E629. [PubMed]

Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Genetic Analysis of CHARGE Syndrome Identifies Overlapping Molecular Biology. Genet Med (2018) Sep; 20(9): 1022-1029. [PubMed]

Iwase S, Martin DM. Chromatin in Nervous System Development and Disease. Molecular Cell Neuroscience (2018) Mar; 87: 1-3. [PubMed]

Moccia A, Martin DM. Nervous system development and disease: A Focus on Trithorax Related Proteins and Chromatin Remodelers. Molecular Cell Neuroscience (2018) Mar; 87: 46-54. [PubMed]

Kong F, Martin DM. Atopic Disorders in CHARGE Syndrome: A Retrospective Study and Literature review. European Journal of Medical Genetics (2018) Apr; 61(4): 225-229. [PubMed]

2017

Charoy C, DInvaut S, Chaix Y, Morlé L, Sanyas I, Bozon M, Kindbeiter K, Durand B, Skidmore J, De Groef L, Seki M, Moons L, Ruhrberg C, Martin JF, Martin DM, Falk J, Castellani V. Genetic Specification of Left-Right Asymmetry in the Diaphragm Muscles and their Motor Innervation. eLife (2017) Jun; 6: e18481. [PubMed]

Van Ravenswaaij-Arts CMA, Blake K, Martin DM. Support for the Diagnosis of CHARGE Syndrome. JAMA Otolaryngology Head Neck Surgery (2017) Jun; 143 (6): 634-635. [PubMed]

Martin DM, Raphael Y. It’s All in the Delivery: Improving AAV Transfection Efficiency with Exosomes. Molecular Therapy (2017) Feb 1; 25(2): 309-311. [PubMed]

Velasquez F, Wiggins JL, Mattson WI, Martin DM, Lord C, Monk CS. The Influence of 5-HTTLPR Transporter Genotype on Amygdala-Subgenual Anterior Cingulate Cortex Connectivity in Autism Spectrum Disorder. Developmental Cognitive Neuroscience (2017) Apr; 24: 12-20. [PubMed]

Bird JE, Barzik M, Drummond MC, Sutton DC, Goodman SM, Morozko EL, Cole SM, Boukhvalova AK, Skidmore J, Syam D, Wilson EA, Fitzgerald T, Rehman AU, Martin DM, Boger ET, Belyantseva IA, Friedman TB. Harnessing Molecular Motors for Nanoscale Pulldown in Live Cells. Molecular Biology of the Cell (2017) Feb; 28(3): 463-675. [PubMed]

2016

Hale CL, Niederriter, AR, Green GE, Martin DM. Atypical Phenotypes Associated with CHD7 Mutations and a Proposal for Broadening CHARGE Syndrome Clinical Diagnostic Criteria. American Journal of Medical Genetics (2016) Feb; 170(2): 344-54. [PubMed]

Srivastava A, Ritesh KC, Tsan YC, Lio R, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM, Bielas SL. De novo Dominant ASXL3 Mutations Alter H2A Deubiquitination and Transcription in Bainbridge-Ropers Syndrome.  Human Molecular Genetics (2016) Feb; 1:25(3): 597-608. [PubMed]

Sperry ED, Schuette JL, van Ravenswaaij-Arts CM, Green GE, Martin DM. Duplication 2p25 in a Child with Clinical Features of CHARGE Syndrome. American Journal of Medical Genetics Part A (2016) May; 170(5): 1148-54. [PubMed]

He D, Marie C, Zhao C, Kim B, Wang J, Deng Y, Frah M, Wang H, He X, Hmidan H, Clavairoly A, Jones BV, David Witte, Zalc B, Zhou X, Choo DI, Martin DM, Parras C, Lu QR. Chd7 Cooperates with Sox10 and Regulates the Onset of CNS Myelination and Remyelination.  Nature Neuroscience (2016) May; 19(5): 678-89. [PubMed]

Hale CL, Niederriter AN, Green GE, Martin DM. Response to Correspondence to Hale et al. Atypical Phenotypes Associated with Pathogenic CHD7 Variants and a Proposal for Broadening CHARGE Syndrome Clinical Diagnostic Criteria. American Journal of Medical Genetics Part A (2016) Dec; 170(12): 3367-3368. [PubMed]

2015

Gage PJ, Hurd EA, and Martin DM. Mouse Models for Dissection of CHD7 Functions in Eye Development and the Basis of Ocular Defects in CHARGE Syndrome.  Investigative Ophthalmology and Visual Sciences (2015) Dec 1;56(13): 7923-30. [PubMed]

Waite MR and Martin DM. Axial-Level Specific Regulation of Neuronal Development: Lessons from PITX.  Journal of Neuroscience Research (2015) Feb;93(2): 195-8. PMID:25124216. [PubMed]

Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, Martin CL, Beaudet AL, Lord C, State MW, Cook Jr. EH, Devlin B. A Genome Wide Association Study of Autism using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity? Biological Psychiatry (2015) May 1; 77(9): 775-84. [PubMed]

Micucci J, Sperry ED, Martin DM. Chromodomain Helicase DNA Binding Proteins in Stem Cells and Human Developmental Diseases.  Stem Cells and Development (2015) Apr 15; 24(8):917-26. [PubMed]

Riley K, Catalano LM, Bernat JA, Adams SD, Martin DM, Lalani SR, Patel A, Innis JW, Rudd MK. Recurrent Deletions and Duplications of Chromosome 2q11.2 and 2q13 are Associated with Variable Outcome.  American Journal of Medical Genetics (2015) Nov; 167(11): 2644-2673. [PubMed]

Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF III, Klei L, Mandell JD, Moreno de Luca D, Poultney CS, Robinson EB, Smith L, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW, ASC Consortium , Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.  Neuron (2015) Nov; 87(6): 1215-1233. [PubMed]

Niederriter AR and Martin DM. Super Enhancers in Cancers, Complex Disease, and Developmental Disorders.  Genes (2015) 6:1183-1200. [PubMed]

2014

Micucci JA, Layman WS, Hurd EA, Sperry ED, Frank SF, Durham MA, Swiderski DL, Skidmore JM, Scacheri PC, Raphael Y, Martin DM. CHD7 and Retinoic Acid Signaling Cooperate to Regulate Neural Stem Cell and Inner Ear Development in Mouse Models of CHARGE Syndrome. Human Molecular Genetics (2014) Jan 15; 23(2): 434-48. [PubMed]

Seeley AH, Durham MA, Micale MA, Wesolowski J, and Martin DM. Macrocerebellum, Epilepsy, Intellectual Disability and Gut Malrotation in a Child with a 16q24.1-q24.2 Contiguous Gene Deletion. American Journal of Medical Genetics (2014) Aug; 164(8): 2062-8. [PubMed]

Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Martin CL, Devlin B, Beaudet AL, Cook Jr. EH, Kim SJ. Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2. Autism Research (2014) Jun; 7(3): 355-62. [PubMed]

Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM. CHD7 Mutations and CHARGE Syndrome in Semicircular Canal Dysplasia.  Journal of Otology and Neurotology (2014) Sep; 35(8): 1466-70. [PubMed]

Van Nostrand JL, Brady CA, Jung H, Fuentes DR, Kozak MM, Johnson TM, Lin CY, Lin CY, Swiderski DL, Vogel H, Bernstein JA, Attié-Bitach T, Chang CP, Wysocka J, Martin DM, Attardi LD. Inappropriate p53 Activation During Development Induces Features of CHARGE Syndrome. Nature (2014) Oct 9; 514(7521): 228-32. [PubMed]

Sperry ED, Hurd EA, Durham MA, Reamer EN, Stein AB, Martin DM. The Chromatin Remodeling Protein CHD7, mutated in CHARGE Syndrome, is necessary for Proper Craniofacial and Tracheal Development. Developmental Dynamics (2014) Sep; 243(9): 1055-66. [PubMed]

2013

Waite MR, Skidmore JS, Micucci JA, Shiratori H, Hamada H, Martin JF, Martin DM. Pleiotropic and Isoform-Specific Functions for Pitx2 in Superior Colliculus and Hypothalamic Neuronal Development. Molecular and Cellular Neurosciences (2013) Jan; 52: 128-39. [PubMed]

2012

Hurd EA, Micucci JA, Reamer EN, DM Martin. Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice Mechanisms of Development. Mechanical Development (2012) Sept-Dec; 129(9-12): 308-23. [PubMed]

Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Stevenson RE, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, and Martin DM. RAB40AL is mutated in Martin-Probst Syndrome, a Rare X-Linked Multisystem Neurodevelopmental Disorder. Journal of Medical Genetics (2012) 49: 332-340. [PubMed]

Waite MR*, Skaggs KA*, Kaviany P, Skidmore JM, Causeret F, Martin JF, Martin DM. Distinct Populations of GABAergic Neurons in Mouse Rhombomere 1 Express but do not Require the Homeodomain Transcription Factor PITX2. Molecular and Cellular Neurosciences (2012) Jan; 49(1): 32-43. Epub 2011 Sep 10. *co-first authors. [PubMed]

Skidmore JS, Waite MR, Alvarez-Bolado G, Puelles L, Martin DM. A Novel TaulacZ Allele Reveals a Requirement for Pitx2 in Formation of the Mammillothalamic Tract. Genesis (2012) Jan; 50(1): 67-73. [PubMed]

2011

Hurd EA, Adams ME, Swiderski D, Layman WS, Beyer L, Dolan D, Raphael Y, and Martin DM. Mature Middle and Inner Ears Express Chd7 and Exhibit Distinctive Pathologies in a Mouse Model of CHARGE Syndrome. Hearing Research (2011) Dec; 282(1-2): 184-95. [PubMed]

Layman WS, Hurd EA, Martin DM. Reproductive Dysfunction and Decreased GnRH Neurogenesis in a Mouse Model of CHARGE Syndrome.  Human Molecular Genetics (2011) May 24. [PubMed]

Waite MR, Skidmore JS, Billi AC, Martin JF, Martin DM. GABAergic and Glutamatergic Identities of Developing Midbrain Pitx2 Neurons. Developmental Dynamics (2011) Feb; 240(2): 333-46. [PubMed]

2010

Layman WS, Hurd EA, Martin DM. Chromodomain Proteins in Development: Lessons from CHARGE Syndrome. Clinical Genetics (2010) Jul; 78(1): 11-20. [PubMed]

Martin DM. Chromatin Remodeling in Development and Disease: Focus on CHD7.  PLoS Genetics (2010) Jul 15; 6(7): e1001010. [PubMed]

Hurd EA, Poucher HK, Cheng K, Raphael Y, Martin DM. The ATP-Dependent Chromatin Remodeling Enzyme CHD7 Regulates Proneural Gene Expression and Neurogenesis in the Inner Ear. Development (2010) 137(18): 3139-3150.

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