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

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

Donita B. Sullivan Research Professor in Pediatrics
Professor of Pediatrics
Professor of Human Genetics

3520 A MSRB I
109 Zina Pitcher Place
Ann Arbor, MI 48109-5952

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

  • 2009-2015 Permanent member, Developmental Brain Disorders (DBD) NIH study section
  • 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
  • 2009-2015 Permanent Member, Developmental Brain Disorders Study Section, National Institutes of Health

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

1. 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. PMID: 25567374.

2. Kacie Riley, Lisa M. Catalano, John A. Bernat, Stacie D. Adams, Donna M. Martin, Seema R. Lalani, Ankita Patel, Jeffrey W. Innis, and M. Katharine Rudd. 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.

3. Stephan J. Sanders, Xin He, A. Jeremy Willsey, A. Gulhan Ercan-Sencicek, Kaitlin E. Samocha, A. Ercument Cicek, Michael T. Murtha, Vanessa H. Bal, Somer L. Bishop, Shan Dong, Arthur P. Goldberg, Cai Jinlu, John F. Keaney III, Lambertus Klei, Jeffrey D. Mandell, Daniel Moreno de Luca, Christopher S. Poultney, Elise B. Robinson, Louw Smith, Mack Y. Su, Nicole A. Teran, Michael F. Walker, Donna M. Werling, Arthur L. Beaudet, Rita M. Cantor, Eric Fombonne, Daniel H. Geschwind, Dorothy E. Grice, Catherine Lord, Jennifer K. Lowe, Shrikant M. Mane, Donna M. Martin, Eric M. Morrow, Michael E. Talkowski, James S. Sutcliffe, Christopher A. Walsh, Timothy W. Yu, ASC Consortium , David H. Ledbetter, Christa Lese Martin, Edwin H. Cook, Joseph D. Buxbaum , Mark J. Daly, Bernie Devlin, Kathryn Roeder, and Matthew W. State. Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron (2015) Nov;87(6):1215-1233.

4. Niederriter, A. R. and Martin, D. M. Super Enhancers in cancers, complex disease, and developmental disorders. Genes (2015) 6:1183-1200.

5. 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.

6. 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.

7. Srivastava, A, Ritesh, KC, Tsan, Y-C, 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.

8. Ethan D. Sperry, Jane L. Schuette, Conny M. A. van Ravenswaaij-Arts, Glenn E. Green, and Donna M. Martin. Overlap in Features between Duplication 2p25 and CHARGE Syndrome American Journal of Medical Genetics (2016) May 170(5) 1148-54.

9. Danyang He, Corentine Marie, Chuntao Zhao, Bongwoo Kim, Jincheng Wang, Yaqi Deng, Magali Frah, Haibo Wang, Xuelian He, Hatem Hmidan, Adrien Clavairoly, Blaise V. Jones, David Witte, Boris Zalc, Xin Zhou, Daniel I. Choo, Donna M. Martin, Carlos Parras, Q. Richard Lu. “Chd7 Cooperates with Sox10 and Regulates the Onset of CNS Myelination and Remyelination”. Nature Neuroscience (2016) May 19 (5) 678-89.

10. Tamar Harel, Wan Hee Yoon, Caterina Garone, Shen Gu, Zeynep Coban-Akdemir, Mohammad K. Eldomery, Jennifer Posey, Shalini N. Jhangiani, Jill A. Rosenfeld, Megan T. Cho, Stephanie Fox, Marjorie Withers, Stephanie M. Brooks, Theodore Chiang, Lita Duraine, Serkan Erdin, Bo Yuan, Yunru Shao, Elie Moussallem, Constanza Lamperti, Maria A. Donati, Joshua D. Smith, Tommaso Pippucci, Pamela Magini, Marco Seri, Massimo Zeviani, Michio Hirano, Richard A. Lewis, Donna M. Muzny, Timothy E. Lotze, Eric Boerwinkle, Baylor-Hopkins Center for Mendelian Genomics, Richard A. Gibbs, Scott E. Hickey, Brett H. Graham, Yaping Yang, Daniela Buhas, Donna M. Martin, Lorraine Potocki, Claudio Graziano, Hugo J. Bellen, James R. Lupski.. Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes. American Journal of Human Genetics (2016) Oct 6;99(4):831-845.

11. Velasquez, F., Wiggins, J.L., Mattson, W. I., Martin, D.M., Lord, C., & Monk, C.S. (in press). The Influence of 5-HTTLPR Transporter Genotype on Amygdala-Subgenual Anterior Cingulate Cortex Connectivity in Autism Spectrum Disorder. Developmental Cognitive Neuroscience (in press).

12. Jonathan E. Bird, Melanie Barzik, Meghan C. Drummond, Daniel C. Sutton, Spencer M. Goodman, Eva L. Morozko, Stacey M. Cole, Elizabeth A. Wilson, Tracy Fitzgerald, Atteeq U. Rehman, Donna M. Martin, Erich T. Boger, Inna A. Belyantseva, Thomas B. Friedman. Harnessing Molecular Motors for Nanoscale Pulldown in Live Cells. Molecular Biology of the Cell (in press).

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