Human Genetics

The Department of Human Genetics is dedicated to basic scientific research in human genetics and genetic disease, as well as the training of the next generation of scientists and health care providers.

Our faculty explore three broad areas of human genetics: molecular genetics, genetic disease, and statistical/population genetics. Within molecular genetics, research groups study DNA repair and recombination, genome instability, gene function and regulation, epigenetics, RNA modification and control, and genomic systems. Research in human genetic disease emphasizes the genetics of development, neurogenetics, stem cell biology, medical genetics, reproductive sciences, and the genetics of cancer. Evolutionary and population genetics research includes statistical tools for genetics, genetic epidemiology, and genetic mapping of complex traits and diseases.

We invite you to explore our faculty, students, graduate programs, courses, and events/seminars.


Featured Publications

Porter RS, Murata-Nakamura Y, Nagasu H, Kim HG, Iwase S. Transcriptome analysis revealed impaired cAMP responsiveness in PHF21A-deficient human cells. Neuroscience. 2017 May 29. pii: S0306-4522(17)30365-2. doi: 10.1016/j.neuroscience.2017.05.031. [Epub ahead of print] PubMed PMID: 28571721.

Edge MD, Algee-Hewitt BFB, Pemberton TJ, Li JZ, Rosenberg NA. Linkage disequilibrium matches forensic genetic records to disjoint genomic marker sets. Proc Natl Acad Sci U S A. 2017 May 30;114(22):5671-5676. doi: 10.1073/pnas.1619944114. Epub 2017 May 15. PubMed PMID: 28507140

Maclary E, Hinten M, Harris C, Sethuraman S, Gayen S, Kalantry S. PRC2 represses transcribed genes on the imprinted inactive X chromosome in mice. Genome Biol. 2017 May 3;18(1):82. doi: 10.1186/s13059-017-1211-5. PubMed PMID: 28468635

Yang B, Zhou W, Jiao J, Nielsen JB, Mathis MR, Heydarpour M, Lettre  Folkersen L, Prakash S, Schurmann C, Fritsche L, Farnum GA, Lin M, Othman M, Hornsby W, Driscoll A, Levasseur A, Thomas M, Farhat L, Dubé MP, Isselbacher EM, Franco-Cereceda A, Guo DC, Bottinger EP, Deeb GM, Booher A, Kheterpal S, Chen YE, Kang HM, Kitzman J, Cordell HJ, Keavney BD, Goodship JA, Ganesh SK, Abecasis G, Eagle KA, Boyle AP, Loos RJF, Eriksson P, Tardif JC, Brummett CM, Milewicz DM, Body SC, Willer CJ. Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve. Nat Commun. 2017 May 25;8:15481. doi: 10.1038/ncomms15481. PubMed PMID: 28541271

Ku CJ, Sekiguchi JM, Panwar B, Guan Y, Takahashi S, Yoh K, Maillard I, Hosoya T, Engel JD. GATA3 Abundance Is a Critical Determinant of T Cell Receptor β Allelic Exclusion. Mol Cell Biol. 2017 May 31;37(12). pii: e00052-17. doi: 10.1128/MCB.00052-17. Print 2017 Jun 15. PubMed PMID: 28320875

Koeller DR, Uhlmann WR, Carere DA, Green RC, Roberts JS; PGen Study Group. Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study. J Genet Couns. 2017 \May 16. doi: 10.1007/s10897-017-0106-7. [Epub ahead of print] PubMed PMID:28512697

Byers HM, Mohnach LH, Fechner PY, Chen M, Thomas IH, Ramsdell LA,\ Shnorhavorian M, McCauley EA, Amies Oelschlager AE, Park JM, Sandberg DE, Adam MP, Keegan CE. Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to \5-alpha reductase type 2 deficiency. Am J Med Genet C Semin Med Genet. 2017 May \25. doi: 10.1002/ajmg.c.31560. [Epub ahead of print] PubMed PMID: 28544750


August 17, 2017 to August 18, 2017
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DHG Software Carpentry Workshop

9:00 AM to 4:00 PM

2737 Medical Science Building II, Furstenberg Scientific Study Center

The UM Department of Human Genetics Software Carpentry Workshop is 2-day-long workshop is designed mostly for novice users who are interested in learning basic programming skills with applications to bioinformatics.

October 13, 2017
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Genetic Counseling Program Open House

3:00 PM to 5:00 PM

Location TBD

Come hear about the University of Michigan Genetic Counseling Program!

The afternoon will include a discussion of our curriculum, the application process, and perspectives from current U of M students and genetic counselors.  

Intended Audience: Individual seeking admission to the Genetic Counseling Program in the next year.

Additional details will be announced in August.