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.

Shukla A, Upadhyai P, Shah J, Neethukrishna K, Bielas S, Girisha KM. Autosomalrecessive spinocerebellar ataxia 20: Report of a new patient and review ofliterature. Eur J Med Genet. 2016 Nov 29. pii: S1769-7212(16)30338-X. doi:10.1016/j.ejmg.2016.11.006. [Epub ahead of print] PubMed PMID: 27913285.

Oprescu SN, Griffin LB, Beg AA, Antonellis A. Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. Methods. 2016 Nov 20. pii:S1046-2023(16)30454-6. doi: 10.1016/j.ymeth.2016.11.013. [Epub ahead of print] Review. PubMed PMID: 27876679.

Garay PM, Wallner MA, Iwase S. Yin-yang actions of histone methylationregulatory complexes in the brain. Epigenomics. 2016 Dec;8(12):1689-1708. PubMed PMID: 27855486.

Gopinath C, Law WD, Rodrguez-Molina JF, Prasad AB, Song L, Crawford GE,Mullikin JC, Svaren J, Antonellis A. Stringent comparative sequence analysisreveals SOX10 as a putative inhibitor of glial cell differentiation. BMCGenomics. 2016 Nov 7;17(1):887. PubMed PMID: 27821050; PubMed Central PMCID:PMC5100263.

Ren YY, Koch LG, Britton SL, Qi NR, Treutelaar MK, Burant CF, Li JZ.Selection-, age-, and exercise-dependence of skeletal muscle gene expressionpatterns in a rat model of metabolic fitness. Physiol Genomics. 2016 Nov1;48(11):816-825. doi: 10.1152/physiolgenomics.00118.2015. PubMed PMID: 27637250.

Wu R, Zhai Y, Kuick R, Karnezis AN, Garcia P, Naseem A, Hu TC, Fearon ER, ChoKR. Impact of oviductal versus ovarian epithelial cell of origin on ovarianendometrioid carcinoma phenotype in the mouse. J Pathol. 2016 Nov;240(3):341-351.doi: 10.1002/path.4783. PubMed PMID: 27538791; PubMed Central PMCID: PMC5071155.

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Human Genetics | University of Michigan, Ann Arbor