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.
Johnson AM, Zuhlke KA, Plotts C, McDonnell SK, Middha S, Riska SM, Schaid DJ, Thibodeau SN, Douglas JA, Cooney KA. Mutational landscape of candidate genes in familial prostate cancer. Prostate. 2014 Oct;74(14):1371-8. doi: 10.1002/pros.22849. PubMed PMID: 25111073.
Mita P, Savas JN, Briggs EM, Ha S, Gnanakkan V, Yates JR 3rd, Robins DM, David G, Boeke JD, Garabedian MJ, Logan SK. URI Regulates KAP1 Phosphorylation and Transcriptional Repression via PP2A Phosphatase in Prostate Cancer Cells. J Biol Chem. 2016 Dec 2;291(49):25516-25528. PubMed PMID: 27780869.
Nishizaki SS, Boyle AP. Mining the Unknown: Assigning Function to Noncoding Single Nucleotide Polymorphisms. Trends Genet. 2017 Jan;33(1):34-45. doi: 10.1016/j.tig.2016.10.008. Review. PubMed PMID: 27939749.
Bar DZ, Arlt MF, Brazier JF, Norris WE, Campbell SE, Chines P, Larrieu D, Jackson SP, Collins FS, Glover TW, Gordon LB. A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome. J Med Genet. 2016 Dec 5. pii: jmedgenet-2016-104295. doi: 10.1136/jmedgenet-2016-104295. [Epub ahead of print] PubMed PMID: 27920058.
van Rooij FJ, Qayyum R, Smith AV, Zhou Y, Trompet … Ganesh SK. Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. Am J Hum Genet. 2017 Jan 5;100(1):51-63. doi: 10.1016/j.ajhg.2016.11.016. PubMed PMID: 28017375.