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.

Public Health Relevance

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.

Agency
National Institute of Health (NIH)
Institute
National Institute of Mental Health (NIMH)
Type
Institutional National Research Service Award (T32)
Project #
5T32MH087977-05
Application #
8488475
Study Section
Pediatrics Subcommittee (CHHD)
Program Officer
Desmond, Nancy L
Project Start
2009-07-01
Project End
2014-06-30
Budget Start
2013-07-01
Budget End
2014-06-30
Support Year
5
Fiscal Year
2013
Total Cost
$280,152
Indirect Cost
$19,495
Name
Emory University
Department
Genetics
Type
Schools of Medicine
DUNS #
066469933
City
Atlanta
State
GA
Country
United States
Zip Code
30322
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
Schmidt, Karl T; Weinshenker, David (2014) Adrenaline rush: the role of adrenergic receptors in stimulant-induced behaviors. Mol Pharmacol 85:640-50
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
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
Spencer, Jessica B; Badik, Jennifer R; Ryan, Emily L et al. (2013) Modifiers of ovarian function in girls and women with classic galactosemia. J Clin Endocrinol Metab 98:E1257-65
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
Long, A B; Kaiser, W J; Mocarski, E S et al. (2013) Apaf1 apoptotic function critically limits Sonic hedgehog signaling during craniofacial development. Cell Death Differ 20:1510-20
Oliver, Tiffany Renee; Tinker, Stuart W; Allen, Emily Graves et al. (2012) Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21. Hum Genet 131:1039-46
Jones, Melanie A; Ng, Bobby G; Bhide, Shruti et al. (2012) DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet 90:363-8

Showing the most recent 10 out of 12 publications