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.
Larson PA, Moldovan JB, Jasti N, Kidd JM, Beck CR, Moran JV. Spliced integrated retrotransposed element (SpIRE) formation in the human genome. PLoS Biol. 2018 Mar 5;16(3):e2003067. doi: 10.1371/journal.pbio.2003067. eCollection 2018 Mar. PubMed PMID: 29505568
Bélanger C, Bérubé-Simard FA, Leduc E, Bernas G, Campeau PM, Lalani SR, Martin DM, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N. Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E620-E629. doi: 10.1073/pnas.1715378115. Epub 2018 Jan 8. PubMed PMID: 29311329
Wolford BN, Willer CJ, Surakka I. Electronic health records: the next wave of complex disease genetics. Hum Mol Genet. 2018 Mar 14. doi: 10.1093/hmg/ddy081. [Epub ahead of print] PubMed PMID: 29547983
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 Mar 23. doi: 10.1002/humu.23424. [Epub ahead of print] PubMed PMID: 29573043
Moccia A, Martin DM. Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers. Mol Cell Neurosci. 2018 Mar;87:46-54. doi: 10.1016/j.mcn.2017.11.016. Epub 2017 Nov 28. Review. PubMed PMID: 29196188
Porter RS, Jaamour F, Iwase S. Neuron-specific alternative splicing of transcriptional machineries: Implications for neurodevelopmental disorders. Mol Cell Neurosci. 2018 Mar;87:35-45. doi: 10.1016/j.mcn.2017.10.006. Epub 2017 Dec 15. Review. PubMed PMID: 29254826
Nie C, Wang H, Wang R, Ginsburg D, Chen XW. Dimeric sorting code for concentrative cargo selection by the COPII coat. Proc Natl Acad Sci U S A. 2018 Apr 3;115(14):E3155-E3162. doi: 10.1073/pnas.1704639115. Epub 2018 Mar 19. PubMed PMID: 29555761
Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genet Med. 2018 Jan 4. doi: 10.1038/gim.2017.233. [Epub ahead of print] PubMed PMID: 29300383