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.
Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, Kayserili H, Gleeson JG. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. J Med Genet. 2017 Mar 9. pii: jmedgenet-2016-104237. doi: 10.1136/jmedgenet-2016-104237. [Epub ahead of print] PubMed PMID: 28280135.
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. 2017 Mar;54(3):212-216. doi: 10.1136/jmedgenet-2016-104295. Epub 2016 Dec 5.
Ku CJ, Sekiguchi JM, Panwar B, Guan Y, Takahashi S, Yoh K, Maillard I, Hosoya T, Engel JD. GATA3 abundance is a critical determinant of T cell receptor beta allelic exclusion. Mol Cell Biol. 2017 Mar 20. pii: MCB.00052-17. doi: 10.1128/MCB.00052-17. [Epub ahead of print] PubMed PMID: 28320875.
Venkata Narayanan I, Paulsen MT, Bedi K, Berg N, Ljungman EA, Francia S, Veloso A, Magnuson B, di Fagagna FD, Wilson TE, Ljungman M. Transcriptional and post-transcriptional regulation of the ionizing radiation response by ATM and p53. Sci Rep. 2017 Mar 3;7:43598. doi: 10.1038/srep43598. PubMed PMID: 28256581; PubMed Central PMCID: PMC5335570.
Home P, Kumar RP, Ganguly A, Saha B, Milano-Foster J, Bhattacharya B, Ray S, Gunewardena S, Paul A, Camper SA, Fields PE, Paul S. Genetic redundancy of GATA factors in the extraembryonic trophoblast lineage ensures the progression of \preimplantation and postimplantation mammalian development. Development. 2017 Mar \1;144(5):876-888. doi: 10.1242/dev.145318. PubMed PMID: 28232602.
Ajluni N, Meral R, Neidert AH, Brady GF, Buras E, McKenna B, DiPaola F, Chenevert TL, Horowitz JF, Buggs-Saxton C, Rupani AR, Thomas PE, Tayeh MK, Innis JW, Omary MB, Conjeevaram H, Oral EA. Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort. Clin Endocrinol (Oxf). 2017 May;86(5):698-707. doi: 10.1111/cen.13311. Epub 2017 Mar 27. PubMed PMID: 28199729.
Ryan KA, De Vries RG, Uhlmann WR, Roberts JS, Gornick MC. Public's Views toward Return of Secondary Results in Genomic Sequencing: It's (Almost) All about the Choice. J Genet Couns. 2017 Mar 29. doi: 10.1007/s10897-017-0095-6. [Epub ahead of print] PubMed PMID: 28357777.