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Gregory Grabowski

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Full Name and Degrees: 
Gregory A. Grabowski, M.D.
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Gregory A. Grabowski, M.D.
Cincinnati Children's Hospital Medical Center
Director of Human Genetics
Professor of Pediatrics
3333 Burnet Ave.
ML 4006
Cincinnati, Ohio 45229

Office # (513)636-7290
Fax # (513)636-2261

research focus: 

Standardize characterization of pluripotent stem cells and their derived differentiated daughter cells. Generation and analyses of DNA, RNA and genomic data. Identifying by sequence analysis mutations or genomic insertion sites, high throughput Next Generation sequencing of transcriptome sequencing, DNA isolation and banking, CHIPseq analyses, data storage and transfer as well as analyses.

Recent publications: 
1.) Wang, D., Zhang, W., Kalfa, T.A., Grabowski, G.A., Davies, S., Malik, P., and Pan, D.: Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler Syndrome. PNAS. 2009, Nov 10 [Epub ahead of print] 2.) Sun, Y., Ran, H., Zamzow, M., Kitatani, K., Skelton, M., Williams, M., Vorhees, C., Witte, D., Hannun, Y., and Grabowski, G.A.: Specific saposin C deficiency: CNS impairment and acid b-glucosidase effects in the mouse. Hum. Mol. Genet. 19:634-647, 2010 3.) Sun Y, Liou B, Ran H, Skelton MR, Williams MT, Vorhees CV, Kitatani K, Hannun YA, Witte DP, Xu YH, and Grabowski GA.: Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits. Hum Mol Genet. 19:1088-1097, 2010 4.) Marshall J, McEachern KA, Chuang WL, Hutto E, Siegel CS, Shayman JA, Grabowski GA, Scheule RK, Copeland DP, Cheng, S.H.: Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy. J. Inherit. Metab. Dis. 33:281-289, 2010
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Gregory A. Grabowski, M.D.

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