Although the Human Genome Project has led to unprecedented advances in our understanding of human genetics, the dearth of genetics professionals in the United States means that we will be limited in our ability to translate this information to human health. The Training Program in Human Disease Genetics will produce a new generation of genetics professionals who are up to this task by providing a broad exposure to the expertise that is important for modern human genetics research. The program is designed for pre- and postdoctoral trainees in the Department of Human Genetics at Emory University School of Medicine, and will take advantage of the remarkable cadre of research and clinical faculty in the department. The interests of the participating faculty range from statistical methodologies in human genetics, to high-throughput genomic resequencing, to animal models, including nonhuman primates, to studying human genetic disease, and finally to genetic epidemiology. This multidisciplinary approach to the same problem - how does genetic variation cause disease?- will provide trainees with a broad view of research in human disease genetics and will place them at the forefront of research on human genetic variation. In addition to didactic training, instruction in scientific communication, and deep participation in a research project, the trainees will also have the opportunity to explore the translational applications of their research - both in terms of clinical genetic testing as well as treatment for genetic disease - as they work closely with the Medical Genetics team in the department. Upon completion of the program, the trainees will be competitive candidates for research careers in human genetics or for careers in medical genetic diagnostic and testing laboratories. As the data on human genetic variation from the Human Genome Project are being collected at a rate that exceeds our ability to understand its meaning, these trainees will be at the leading edge of research in human disease genetics.
Over the past several years, there has been a tremendous explosion in our ability to detect human genetic variation of many types. However, we do not fully understand the significance of this variation. It is crucial that we train human geneticists who can take a multi-pronged approach to studying human genetic variation and that they consistently keep in focus the translational applications of their work.
|Seixas, CecÃlia; Choi, Soo Young; Polgar, Noemi et al. (2016) Arl13b and the exocyst interact synergistically in ciliogenesis. Mol Biol Cell 27:308-20|
|Daenzer, Jennifer M I; Jumbo-Lucioni, Patricia P; Hopson, Marquise L et al. (2016) Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation. Dis Model Mech 9:1375-1382|
|Umberger, Nicole L; Caspary, Tamara (2015) Ciliary transport regulates PDGF-AA/Î±Î± signaling via elevated mammalian target of rapamycin signaling and diminished PP2A activity. Mol Biol Cell 26:350-8|
|Ramachandran, Dhanya; Mulle, Jennifer G; Locke, Adam E et al. (2015) Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects. Genet Med 17:554-60|
|Almli, Lynn M; Stevens, Jennifer S; Smith, Alicia K et al. (2015) A genome-wide identified risk variant for PTSD is a methylation quantitative trait locus and confers decreased cortical activation to fearful faces. Am J Med Genet B Neuropsychiatr Genet 168B:327-36|
|Middlebrooks, Candace D; Mukhopadhyay, Nandita; Tinker, Stuart W et al. (2014) Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21. Hum Mol Genet 23:408-17|
|Myrick, Leila K; Nakamoto-Kinoshita, Mika; Lindor, Noralane M et al. (2014) Fragile X syndrome due to a missense mutation. Eur J Hum Genet 22:1185-9|
|Schmidt, Karl T; Weinshenker, David (2014) Adrenaline rush: the role of adrenergic receptors in stimulant-induced behaviors. Mol Pharmacol 85:640-50|
|Suhl, Joshua A; Chopra, Pankaj; Anderson, Bart R et al. (2014) Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences. Hum Mol Genet 23:5479-91|
|Higginbotham, Holden; Guo, Jiami; Yokota, Yukako et al. (2013) Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation. Nat Neurosci 16:1000-7|
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