A phase IIa clinical trial to test the safety and efficacy of interferon gamma treatment in elevating frataxin levels in Friedreich’s ataxia (FRDA) patients.

A phase IIa clinical trial to test the safety and efficacy of interferon gamma treatment in elevating frataxin levels in Friedreich’s ataxia (FRDA) patients. Dr Roberto Testi, Universita’ di Roma Tor Vergata, Italy.

New research project

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.

Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich’s ataxia

Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich’s ataxia. Sirena Soriano, José V. Llorens, Laura B. Sobero, Lucía Gutiérrez, Pablo Calap-Quintana, M. Puerto Morales, M. Dolores Moltó, M. José Martínez-Sebastián. Gene, Available online 28 March 2013.

Keywords: Frataxin, aconitase, mitochondria, oxidative stress, life span, climbing capability

Edison Pharmaceuticals, Inc. signs licensing agreement with Dainippon Sumitomo Pharma Co., Ltd. for development & commercialization of orphan mitochondrial and adult central nervous system disease drugs

Edison Pharmaceuticals, Inc. signs licensing agreement with Dainippon Sumitomo Pharma Co., Ltd. for development & commercialization of orphan mitochondrial and adult central nervous system disease drugs.

MOUNTAIN VIEW, Calif., March 28, 2013 /PRNewswire/ -- Edison Pharmaceuticals today announced that it has entered into a research/development and commercialization agreement with Dainippon Sumitomo Pharma Co., Ltd. (DSP) for the development of EPI-743 and EPI-589 in Japan. read more...

Synthesis of Benzoquinone Antioxidants and a Bleomycin Disaccharide Library

Synthesis of Benzoquinone Antioxidants and a Bleomycin Disaccharide Library. Mathilakathu Madathil, Manikandadas (Author) / Hecht, Sidney M (Advisor) / Rose, Seth (Committee member) / Woodbury, Neal (Committee member) / Arizona State University (Publisher).; Doctoral Dissertation, ASU Electronic Dissertations and Theses (2013)

The synthesized 5-amino-3-tridecyl-1,4-benzoquinone antioxidants were tested for their ability to protect Friedreich's ataxia (FRDA) lymphocytes from induced oxidative stress. Some of the analogues synthesized conferred cytoprotection in a dose-dependent manner in FRDA lymphocytes at micromolar concentrations.


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Assessment of upper limb function in young Friedreich ataxia patients compared to control subjects using a new three-dimensional kinematic protocol

Assessment of upper limb function in young Friedreich ataxia patients compared to control subjects using a new three-dimensional kinematic protocol.
Nathalie Maurel, Amadou Diop, Arnaud Gouelle, Corinne Alberti, Isabelle Husson; Clinical Biomechanics, Available online 26 March 2013. http://dx.doi.org/10.1016/j.clinbiomech.2013.02.007

Keywords: Friedreich ataxia, Evaluation of upper limb function, Three-dimensional kinematic protocol, Reliability, Measurement errors, Discriminative ability.

Le phénotype atypique des maladies de Friedreich de début tardif et très tardif

Le phénotype atypique des maladies de Friedreich de début tardif et très tardif. C. Lecocq, K. Nguyen, J.-P. Azulay, A. Durr, M. Pandolfo, C. Tranchant, M. Anheim; Revue Neurologique, Volume 169, Supplement 2, April 2013, Pages A18-A19. http://dx.doi.org/10.1016/j.neurol.2013.01.036

Keywords: Friedreich, Lofa, vlofa, Ataxie cérébelleuse

The optic nerve: A “mito-window” on mitochondrial neurodegeneration

The optic nerve: A “mito-window” on mitochondrial neurodegeneration. Alessandra Maresca, Chiara la Morgia, Leonardo Caporali, Maria Lucia Valentino, Valerio Carelli; Molecular and Cellular Neuroscience, Volume 55, July 2013, Pages 62-76. http://dx.doi.org/10.1016/j.mcn.2012.08.004

Keywords: Mitochondrial disease, Optic atrophy, Mitochondrial functions, LHON, DOA, Friedreich ataxia, Retinal ganglion cells.