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The laboratory of Dr. Buz Jinnah (http://pharmacology.emory.edu/hess-jinnah/) at Emory University School of Medicine Departments of Neurology and Human Genetics in Atlanta, GA is seeking a postdoctoral fellow interested in using human induced pluripotent stem cells (iPSCs) to study molecular mechanisms in neurogenetic disease.
The lab has an open position to study the mechanisms responsible for neuronal dysfunction in Lesch-Nyhan Disease, an X-linked disease with characteristic neurobehavioral abnormalities. This disease is caused by mutations in the HPRT1 gene, which encodes the hypoxanthine-guanine phosphoribosyltransferase enzyme. This enzyme is expressed in nearly all cells and plays a well-characterized role in purine biochemistry that involves recycling free bases and maintaining nucleotide pools, important for energy homeostasis, DNA and RNA synthesis, intra- and inter-cellular signally, and other functions. Although the mechanism by which HGprt deficiency leads to the neurobehavioral abnormalities remains unclear, purines have been shown to influence many aspects of neural function and development. A total of 6 LND iPSC lines and matched normal controls has been generated and characterized already, so they are poised to elucidate mechanism of neural dysfunction of these neurons.
Our approach involves a combination of unbiased and hypothesis-driven methods. Initially, we intend to differentiate our patient-derived iPSCs into dopaminergic or cortical neurons, and characterize their morphological abnormalities during development. Next we intend to use a combination of gene expression profiling (RNAseq), proteomics, and metabolomics to characterize abnormalities at various stages of development. Finally, we will determine if purine deficiency or other changes in purine metabolism occur, and how they cause abnormal development. In addition to the patient-derived iPSCs, we intend to use CRISPR/Cas9 to generate a series of isogenic iPSCs to study in parallel.
MINIMUM QUALIFICATIONS: A doctoral degree or equivalent (Ph.D., M.D., ScD., D.V.M., DDS etc) in an appropriate field. Excellent scientific writing ability and strong oral communication skills. The ability to work effectively and collegially with colleagues. Additional qualifications as specified by the Principal Investigator. DATE CREATED/MODIFIED/REVIEWED: 4/27/10 JB
Dr. Jinnah received his undergraduate degree from Duke University (Durham, North Carolina), his M.D. and Ph.D. degrees from the University of California (San Diego, CA), and his Neurology Residency training at Johns Hopkins University (Baltimore, MD). He is currently Professor of Neurology and Human Genetics at Emory University in Atlanta, where he spends the majority of his time conducting research in neurogenetic diseases. He is widely known for his basic and translational research in neurogenetic disorders. His laboratory focuses on developing a better understanding of these disorders via genetics and biochemistry, cell and animal models, as well as translational and clinical studies involving patients. He has held multiple large NIH grants, and has published more than 200 articles. Link to articles:
Emory University is a top-ranked private institution recognized internationally for its outstanding liberal arts colleges, graduate schools, and one of the world's leading healthcare systems. It is located on a beautiful campus in Atlanta, Georgia's historic Druid Hills neighborhood. The area is vibrant with good restaurants and sources of entertainment. Atlanta enjoys rolling hills, a diverse population, and very mild winters.
The successful applicant should be a senior graduate student or recent graduate with a Ph.D. in neuroscience or cell biology. Prior experience with pluripotent stem cell culture, cell imaging, and/or CRISPR/Cas9 technology is required. Interested individuals should officially apply to this requisition and address interest to Dr. Buz Jinnah.
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