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.
Antonellis A, Oprescu SN, Griffin LB, Heider A, Amalfitano A, Innis JW. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. Hum Mutat. 2018 Jun;39(6):834-840. doi: 10.1002/humu.23424. Epub 2018 Apr 10. PubMed PMID: 29573043; PubMed Central PMCID: PMC5992071.
Lesperance MM, Winkler E, Melendez TL, Yashar BM. "My Plate is Full": Reasons for Declining a Genetic Evaluation of Hearing Loss. J Genet Couns. 2018
Jun;27(3):597-607. doi: 10.1007/s10897-017-0149-9. Epub 2017 Oct 4. PubMed PMID: 28980162.
Wang B, Joo JH, Mount R, Teubner BJW, Krenzer A, Ward AL, Ichhaporia VP, Adams EJ, Khoriaty R, Peters ST, Pruett-Miller SM, Zakharenko SS, Ginsburg D, Kundu M. The COPII cargo adapter SEC24C is essential for neuronal homeostasis. J Clin Invest. 2018 Jun 25. pii: 98194. doi: 10.1172/JCI98194. [Epub ahead of print]
PubMed PMID: 29939162.
Baker EM, Thompson CH, Hawkins NA, Wagnon JL, Wengert ER, Patel MK, George AL Jr, Meisler MH, Kearney JA. The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy. Epilepsia. 2018 Jun;59(6):1166-1176. doi: 10.1111/epi.14196. Epub 2018 May 21. PubMed PMID: 29782051.
Guan Y, Li T, Zhang H, Zhu F, Omenn GS. Prioritizing Predictive Biomarkers for Gene Essentiality in Cancer Cells with mRNA Expression Data and DNA Copy Number Profile. Bioinformatics. 2018 Jun 15. doi: 10.1093/bioinformatics/bty467. [Epub ahead of print] PubMed PMID: 29912344.
7: Jo Hodonsky C, Schurmann C, Schick UM, Kocarnik J, Tao R, van Rooij FJ, Wassel C, Buyske S, Fornage M, Hindorff LA, Floyd JS, Ganesh SK, Lin DY, North KE, Reiner AP, Loos RJ, Kooperberg C, Avery CL. Generalization and fine mapping of red blood cell trait genetic associations to multi-ethnic populations: The PAGE Study. Am J Hematol. 2018 Jun 15. doi: 10.1002/ajh.25161. [Epub ahead of print] PubMed PMID: 29905378.