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 

Arlt MF, Rajendran S, Holmes SN, Wang K, Bergin IL, Ahmed S, Wilson TE, Glover TW. Effects of hydroxyurea on CNV induction in the mouse germline. Environ Mol Mutagen. 2018 Oct;59(8):698-714. doi: 10.1002/em.22233. Epub 2018 Sep 15. PubMed PMID: 30218578.

Carlson J, Locke AE, Flickinger M, Zawistowski M, Levy S, Myers RM, Boehnke M, Kang HM, Scott LJ, Li JZ, Zöllner S; BRIDGES Consortium. Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans. Nat Commun. 2018 Sep 14;9(1):3753. doi: 10.1038/s41467-018-05936-5. PubMed PMID: 30218074.

Wang IX, Grunseich C, Fox J, Burdick J, Zhu Z, Ravazian N, Hafner M, Cheung VG. Human proteins that interact with RNA/DNA hybrids. Genome Res. 2018 Sep;28(9):1405-1414. doi: 10.1101/gr.237362.118. Epub 2018 Aug 14. PubMed PMID: 30108179 .

Emmer BT, Hesketh GG, Kotnik E, Tang VT, Lascuna PJ, Xiang J, Gingras AC, Chen XW, Ginsburg D. The cargo receptor SURF4 promotes the efficient cellular secretion of PCSK9. Elife. 2018 Sep 25;7. pii: e38839. doi: 10.7554/eLife.38839. PubMed PMID: 30251625 .

Sucularli C, Thomas P, Kocak H, White JS, O'Connor BC, Keegan CE. High-throughput gene expression analysis identifies p53-dependent and -independent pathways contributing to the adrenocortical dysplasia (acd) phenotype. Gene. 2018 Dec 30;679:219-231. doi:  0.1016/j.gene.2018.09.002. Epub 2018 Sep 4. PubMed PMID: 30189268 .

Akyol A, Güner G, Özşeker HS, Işık A, Atcı Ö, Uzun S, Atayar E, Ozaltin F, Gedikoğlu G, Sökmensüer C, Fearon ER. An immunohistochemical approach to detect oncogenic CTNNB1 mutations in primary neoplastic tissues. Lab Invest. 2018 Sep 3. doi: 10.1038/s41374-018-0121-9. [Epub ahead of print] PubMed PMID: 30177831.