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.
Shukla A, Upadhyai P, Shah J, Neethukrishna K, Bielas S, Girisha KM. Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. Eur J Med Genet. 2017 Feb;60(2):118-123. doi: 10.1016/j.ejmg.2016.11.006. PubMed PMID: 27913285.
Lopez-Santiago LF, Yuan Y, Wagnon JL, Hull JM, Frasier CR, O'Malley HA, Meisler MH, Isom LL. Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy. Proc Natl Acad Sci U S A. 2017 Feb 28;114(9):2383-2388. doi: 10.1073/pnas.1616821114. PubMed PMID: 28193882.
Gornick MC, Scherer AM, Sutton EJ, Ryan KA, Exe NL, Li M, Uhlmann WR, Kim SY, Roberts JS, De Vries RG. Effect of Public Deliberation on Attitudes toward Returnof Secondary Results in Genomic Sequencing. J Genet Couns. 2017 Feb;26(1):122-132. doi: 10.1007/s10897-016-9987-0. PubMed PMID: 27307100.
Varshney A, Scott LJ, Welch RP, Erdos MR, Chines PS, Narisu N, Albanus RD, Orchard P, Wolford BN, Kursawe R, Vadlamudi S, Cannon ME, Didion JP, Hensley J, Kirilusha A; NISC Comparative Sequencing Program., Bonnycastle LL, Taylor DL, Watanabe R, Mohlke KL, Boehnke M, Collins FS, Parker SC, Stitzel ML. Genetic regulatory signatures underlying islet gene expression and type 2 diabetes. Proc Natl Acad Sci U S A. 2017 Feb 28;114(9):2301-2306. doi: 10.1073/pnas.1621192114. PubMed PMID: 28193859.
van Ravenswaaij-Arts CM, Blake K, Martin DM. Support for the Diagnosis of CHARGE Syndrome. JAMA Otolaryngol Head Neck Surg. 2017 Feb 23. doi: 10.1001/jamaoto.2016.4762. [Epub ahead of print] PubMed PMID: 28241200.
Omenn GS. Advances of the HUPO Human Proteome Project with broad applications for life sciences research. Expert Rev Proteomics. 2017 Feb;14(2):109-111. doi: 10.1080/14789450.2017.1270763. PubMed PMID: 27935328 .