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 

Carlson J, Li JZ, Zöllner S. Helmsman: fast and efficient mutation signature analysis for massive sequencing datasets. BMC Genomics. 2018 Nov 28;19(1):845. doi: 10.1186/s12864-018-5264-y. PubMed PMID: 30486787.

Ritter KE, Martin DM. Neural crest contributions to the ear: Implications for congenital hearing disorders. Hear Res. 2018 Nov 14. pii: S0378-5955(18)30414-3.  doi: 10.1016/j.heares.2018.11.005. [Epub ahead of print] Review. PubMed PMID: 30455064.

Carethers JM, Quezada SM, Day LW. Diversity Within U.S. Gastroenterology Physician Practices: The Pipeline, Cultural Competencies, and GI Societies Approaches. Gastroenterology. 2018 Nov 16. pii: S0016-5085(18)35270-3. doi:10.1053/j.gastro.2018.10.056. [Epub ahead of print] PubMed PMID: 30452917.

Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Hum Mutat. 2018 Nov;39(11):1476-1484. doi: 10.1002/humu.23632. PubMed PMID: 30311377.

Trenkwalder T, Nelson CP, Musameh MD, Mordi IR, Kessler T, Pellegrini C, Debiec R, Rheude T, Lazovic V, Zeng L, Martinsson A, Gustav Smith J, Gådin JR, Franco-Cereceda A, Eriksson P, Nielsen JB, Graham SE, Willer CJ, Hveem K, Kastrati A, Braund PS, Palmer CNA, Aracil A, Husser O, Koenig W, Schunkert H, Lang CC, Hengstenberg C, Samani NJ. Effects of the coronary artery disease associated LPA and 9p21 loci on risk of aortic valve stenosis. Int J Cardiol. 2018 Nov 17. pii: S0167-5273(18)31830-8. doi: 10.1016/j.ijcard.2018.11.094. [Epub ahead of print] PubMed PMID: 30482443.

Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet. 2018 Dec;137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19. PubMed PMID: 30450527.

Paik YK, Lane L, Kawamura T, Chen YJ, Cho JY, LaBaer J, Yoo JS, Domont G, Corrales F, Omenn GS, Archakov A, Encarnación-Guevara S, Lui S, Salekdeh GH, Cho JY, Kim CY, Overall CM. Launching the C-HPP neXt-CP50 Pilot Project for Functional Characterization of Identified Proteins with No Known Function. J Proteome Res. 2018 Nov 29. doi: 10.1021/acs.jproteome.8b00383. [Epub ahead of print] PubMed PMID: 30269496.