Professor of Pediatrics
M.D., University of Pennsylvania
The historical interest of my laboratory has been in gene therapy and he development of efficient gene transfer methods. Our principal clinical model for gene therapy is the neurodevelopmental disorder Lesch Nyhan Disease caused by deficiency of the housekeeping HPRT gene and characterized by retardation, dystonia and self-mutilatory behavior. We have shown that HPRT deficiency dysregulates a number of vital signaling pathways and leads to dysregulation of neurogenesis and aberrant expression of genes required for faithful development of dopamine pathways and dopaminergic neurons. Our current studies involve gene expression studies in cell culture models and in a knockout mouse model of the disease. We are currently concentrating on characterizing the aberrant neurogenic mechanisms in human ES and iPS cells deficient in HPRT. Our general technology includes gene expression profiling, ES and iPS cell differentiation, ChIP-Sseq analysis of wild type and HPRT knockdown cells and micro-RNA dysregulation of neural pathways in HPRT deficiency. Another set of studies deals with the development of molecular signals of administration of doping agents in Sport and the use of computational methods for meta analysis of disparate datasets.
BMS Focus Areas:
Guibinga GH, Friedmann T. Cold Spring Harb Protoc. 2010 Jul 1;2010:pdb.prot5420. doi: 10.1101/pdb.prot5420.
Friedmann T, Rabin O, Frankel MS. Science. 2010 Feb 5;327(5966):647-8. No abstract available.
Guibinga GH, Hsu S, Friedmann T. Mol Ther. 2010 Jan;18(1):54-62. Epub 2009 Aug 11.
King CC, Bouic K, Friedmann T. Proteome Sci. 2009 Aug 11;7:28.
Bhasker CR, Friedmann T. BMC Genomics. 2008 Nov 11;9:535.
Guibinga GH, Song S, Loring J, Friedmann T. J Virol Methods. 2008 Mar;148(1-2):277-82. Epub 2008 Jan 18.
Guo LT, Friedmann T, King CC. Proteomics. 2007 Nov;7(21):3867-9.
Song S, Friedmann T. Mol Ther. 2007 Aug;15(8):1432-43.
9.Lessons for the stem cell discourse from the gene therapy experience. Friedmann T. Perspect Biol Med. 2005 Autumn;48(4):585-91.
PMID: 16227669 [PubMed - indexed for MEDLINE]