Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases

Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases. Jacques P Tremblay, Xiao Xiao, Annemieke Aartsma-Rus, Carlos Barbas, Helen M Blau, Adam J Bogdanove, Kym Boycott, Serge Braun, Xandra O Breakefield, Juan A Bueren, Michael Buschmann, Barry J Byrne, Michele Calos, Toni Cathomen, Jeffrey Chamberlain, Marinee Chuah, Kenneth Cornetta, Kay E Davies, J George Dickson, Philippe Duchateau, Terence R Flotte, Daniel Gaudet, Charles A Gersbach, Renald Gilbert, Joseph Glorioso, Roland W Herzog, Katherine A High, Wenlin Huang, Johnny Huard, J Keith Joung, Depei Liu, Dexi Liu, Hanns Lochmüller, Lawrence Lustig, Jeffrey Martens, Bernard Massie, Fulvio Mavilio, Jerry R Mendell, Amit Nathwani, Katherine Ponder, Matthew Porteus, Jack Puymirat, Jude Samulski, Shin’ichi Takeda, Adrian Thrasher, Thierry VandenDriessche, Yuquan Wei, James M Wilson, Steve D Wilton, John H Wolfe and Guangping Gao; Molecular Therapy (2013); 21 2, 266–268. doi:10.1038/mt.2013.4

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Jacques P Tremblay, Centre de Recherche du CHU and Department of Molecular Medicine, Université Laval, Quebec, Quebec, Canada, is working on gene therapy and protein replacement therapy in Friedreich's ataxia since long time.

See also: Translating the Genomics Revolution . (Jacques P Tremblay)

Emery and Rimoin's Principles and Practice of Medical Genetics

Chapter 23- Diagnostic Molecular Genetics. Wayne W. Grody, Joshua L. Deignan; Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013, Pages 1-31. http://dx.doi.org/10.1016/B978-0-12-383834-6.00030-6

FIGURE 23-9. PCR analysis of Friedreich ataxia GAA trinucleotide repeat expansion. Arrow indicates the size of PCR products generated from normal alleles. The samples shown are 1, normal; 2, homozygous expanded; and 3, heterozygous.

Chapter 101 – Iron Metabolism and Related Disorders. Kaveh Hoda, Christopher L. Bowlus, Thomas W. Chu, Jeffrey R. Gruen; Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013, Pages 1-41. http://dx.doi.org/10.1016/B978-0-12-383834-6.00106-3


Chapter 118 – The Hereditary Ataxias. Puneet Opal, Huda Zoghbi; Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013, Pages 1-32. http://dx.doi.org/10.1016/B978-0-12-383834-6.00125-7

Hereditary ataxias: overview.

Hereditary ataxias: overview. Jayadev S, Bird TD; Genet Med advance online publication 28 March 2013 Genetics in Medicine (2013); doi:10.1038/gim.2013.28.

Keywords: highly heterogeneous group, gait ataxia, incoordination of eye movements, speech, and hand movements, atrophy of the cerebellum, spinocerebellar ataxia, Friedreich, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1, ataxia with oculomotor apraxia type 2, ataxia with vitamin E deficiency, cerebrotendinous xanthomatosis, Refsum, coenzyme Q10 deficiency.