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

Srivastava A, McGrath B, Bielas SL. Histone H2A Monoubiquitination in Neurodevelopmental Disorders. Trends Genet. 2017 Jun 29. pii: S0168-9525(17)30091-4. doi: 10.1016/j.tig.2017.06.002. [Epub ahead of print] Review. PubMed PMID: 28669576. 

Ko C, Arscott P, Concannon M, Saberi S, Day SM, Yashar BM, Helms AS. Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup. Genet Med. 2017 Jun 22. doi: 10.1038/gim.2017.79. [Epub ahead of print] PubMed PMID: 28640247. 

Wagnon JL, Barker BS, Ottolini M, Park Y, Volkheimer A, Valdez P, Swinkels MEM, Patel MK, Meisler MH. Loss-of-function variants of SCN8A in intellectual disability without seizures. Neurol Genet. 2017 Jun 7;3(4):e170. doi: 10.1212/NXG.0000000000000170. eCollection 2017 Aug. PubMed PMID: 28702509.

Ku CJ, Sekiguchi JM, Panwar B, Guan Y, Takahashi S, Yoh K, Maillard I, Hosoyab 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. 

van Ravenswaaij-Arts CMA, Blake K, Martin DM. Support for the Diagnosis of CHARGE Syndrome. JAMA Otolaryngol Head Neck Surg. 2017 Jun 1;143(6):634-635. doi: 10.1001/jamaoto.2016.4762. PubMed PMID: 28241200.

Meyer-Schuman R, Antonellis A. Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease. Hum Mol Genet. 2017 Jun 15. doi: 10.1093/hmg/ddx231. [Epub ahead of print] PubMed PMID: 28633377.

Zhai Y, Wu R, Kuick R, Sessine MS, Schulman S, Green M, Fearon ER, Cho KR. High-grade serous carcinomas arise in the mouse oviduct via defects linked to the human disease. J Pathol. 2017 Jun 13. doi: 10.1002/path.4927. [Epub ahead of print] PubMed PMID: 28608929.

 

 

Events

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.