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

Kazazian HH Jr, Moran JV.  Mobile DNA in Health and Disease. N Engl J Med. 2017 Jul 27;377(4):361-370. doi: 10.1056/NEJMra1510092.  No abstract available.  PMID: 28745987 

McConnell MJ, Moran JV*, Abyzov A, Akbarian S, Bae T, Cortes-Ciriano I, Erwin JA, Fasching L, Flasch DA, Freed D, Ganz J, Jaffe AE, Kwan KY, Kwon M, Lodato MA, Mills RE, Paquola ACM, Rodin RE, Rosenbluh C, Sestan N, Sherman MA, Shin JH, Song S, Straub RE, Thorpe J, Weinberger DR, Urban AE, Zhou B, Gage FH, Lehner T, Senthil G, Walsh CA, Chess A, Courchesne E, Gleeson JG, Kidd JM, Park PJ, Pevsner J, Vaccarino FM;  Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.  Science. 2017 Apr 28;356(6336). pii: eaal1641. doi: 10.1126/science.aal1641. Epub 2017 Apr 27. Review.  PMID: 28450582   
* Co-corresponding author with Dr. MJ McConnell

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.




September 22, 2017 to September 24, 2017
Add to Calendar

Department of Human Genetics Fall Retreat

3:00 PM to 12:00 PM

Macmillan Center, Roscommon, MI

The Department of Human Genetics Fall Retreat is an annual event that brings together faculty, students, fellows and staff together for a program of scientific discussion and social interactions. The events include poster sessions, talks by trainees and faculty and a keynote address from an invited speaker who is a leader in the field of human genetics.

October 4, 2017
Add to Calendar

Genetics Training Program Annual Retreat

2:00 PM to 4:00 PM

D. Dan and Betty Kahn Auditorium in BSRB

The Annual Genetics Training Program Retreat in 2017 will be held on October 4th, 2-4pm, in the D. Dan and Betty Kahn Auditorium in BSRB. We are honored to have Dr. Tony Wynshaw-Bori present the keynote lecture.