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.
Oprescu SN, Griffin LB, Beg AA, Antonellis A. Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. Methods. 2017 Jan 15;113:139-151. doi: 10.1016/j.ymeth.2016.11.013. Review. PubMed PMID: 27876679 .
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 13. pii: 201616821. doi: 10.1073/pnas.1616821114. [Epub ahead of print] PubMed PMID: 28193882.
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 13. pii: 201621192. doi: 10.1073/pnas.1621192114. [Epub ahead of print] PubMed PMID: 28193859.
Quinonez SC, Gelehrter TD, Uhlmann WR. A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15. Am J Med Genet A. 2017 Jan;173(1):268-273. doi: 10.1002/ajmg.a.38000. PubMed PMID: 27739187.
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.