Human Genetics

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.

We invite you to explore our faculty, students, graduate programs, courses, and events/seminars.


Featured Publications

Porter RS, Jaamour F, Iwase S. Neuron-specific alternative splicing of transcriptional machineries: Implications for neurodevelopmental disorders. Mol Cell Neurosci. 2017 Dec 15. pii: S1044-7431(17)30237-3. doi: 10.1016/j.mcn.2017.10.006. [Epub ahead of print] Review. PubMed PMID: 29254826. 

Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, Espinós C, Demeler B, Antonellis A, Francklyn C. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal \peripheral neuropathy. Hum Mutat. 2017 Dec 12. doi: 10.1002/humu.23380. [Epub ahead of print] PubMed PMID: 29235198

Fernandes DJ, Ellegood J, Askalan R, Blakely RD, Dicicco-Bloom E, Egan SE, Osborne LR, Powell CM, Raznahan A, Robins DM, Salter MW, Sengar AS, Veenstra-VanderWeele J, Henkelman RM, Lerch JP. Spatial gene expression analysis of neuroanatomical differences in mouse models. Neuroimage. 2017 Dec;163:220-230. doi: 10.1016/j.neuroimage.2017.08.065. Epub 2017 Sep 4. PubMed PMID: 28882630. 

Stutterd C, Diakumis P, Bahlo M, Fanjul Fernandez M, Leventer RJ, Delatycki M, Amor D, Chow CW, Stephenson S, Meisler MH, Mclean C, Lockhart PJ. Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14. Ann Clin Transl Neurol. 2017 Nov 7;4(12):859-864. doi:10.1002/acn3.487. eCollection 2017 Dec. PubMed PMID: 29296614. 

Taniguchi K, Shao Y, Townshend RF, Cortez CL, Harris CE, Meshinchi S, Kalantry S, Fu J, O'Shea KS, Gumucio DL. An apicosome initiates self-organizing morphogenesis of human pluripotent stem cells. J Cell Biol. 2017 Dec 4;216(12):3981-3990. doi: 10.1083/jcb.201704085. Epub 2017 Oct 11. PubMed PMID: 29021220.  

Ulintz PJ, Greenson JK, Wu R, Fearon ER,    Hardiman KM. Lymph Node Metastases in Colon Cancer are Polyclonal. Clin Cancer Res. 2017 Dec 4. pii: clincanres.1425.2017. doi: 10.1158/1078-0432.CCR-17-1425. [Epub ahead of print] PubMed PMID: 29203589

Iwase S, Martin DM. Chromatin in nervous system development and disease. Mol Cell Neurosci. 2017 Dec 15. pii: S1044-7431(17)30397-4. doi: 10.1016/j.mcn.2017.12.006. [Epub ahead of print] PubMed PMID: 29248671

Li H, Panwar B, Omenn GS, Guan Y. Accurate Prediction of Personalized Olfactory Perception from Large-Scale Chemoinformatic Features. Gigascience. 2017 Dec 15. doi: 10.1093/gigascience/gix127. [Epub ahead of print] PubMed PMID: 29267859.

Koeller DR, Uhlmann WR, Carere DA, Green RC, Roberts JS; PGen Study Group.  Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study.  I Genet Couns. 2017 Dec:26(6):1270-1279. doi: 10.1007/s10897-017-0106-7. Epub 2017 May 16. PubMed PMID: 28512697