Voyager Therapeutics, a new gene therapy company focused on CNS diseases, including Friedreich's Ataxia (FA), is launched

Voyager Therapeutics, a new gene therapy company focused on CNS diseases, including Friedreich's Ataxia (FA), is launched. FARA Press Release, February 12, 2014

Downingtown, PA- February 12, 2014- FARA is pleased to recognize today's launch of Voyager Therapeutics and its commitment to developing gene therapies for central nervous system disorders, including FA. Voyager is backed by leading life sciences investor Third Rock Ventures, and the company has assembled leaders in adeno-associated virus (AAV) gene therapy to develop life-changing treatments with the goal of dramatically improving patients’ lives. See press release from Voyager Therapeutics: http://www.voyagertherapeutics.com/pdfs/Voyager_02.11.14.pdf

Using the Wii Fit as a tool for balance assessment and neurorehabilitation: the first half decade of "Wii-search"

Using the Wii Fit as a tool for balance assessment and neurorehabilitation: the first half decade of "Wii-search". Daniel J Goble, Brian L Cone and Brett W Fling; Journal of NeuroEngineering and Rehabilitation 2014, 11:12 doi:10.1186/1743-0003-11-12
Published: 8 February 2014

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Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia

Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia. Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Francesco Sacca, Alessandro Filla, Thomas Klockgether, Thomas Klopstock, Ludger Schöls, Heike Jacobi, Boriana Büchner, Jennifer Müller vom Hagen, Lorenzo Nanetti and Karen Manicom. Movement Disorders, Article first published online: 11 FEB 2014 | DOI: 10.1002/mds.25836

CEPO was safe and well tolerated in a 2-week treatment phase. Secondary outcome measures remained without apparent difference between CEPO and placebo

Program and Abstracts for the SIMD Annual Meeting

Program and Abstracts for the SIMD Annual Meeting. Society for Inherited Metabolic Disorders 37th Annual Meeting; Saturday, March 9–March 12, 2014, Asilomar Conference Center, Pacific Grove, CA

65) NEWBORN SCREENING FOR LYSOSOMAL STORAGE DISORDERS, FRIEDREICH ATAXIA,WILSON DISEASE AND X-ADRENOLEUKODYSTROPHY. A COMPARATIVE EFFECTIVENESS STUDY.
Matern D, Raymond K, Isaya G, Tortorelli S, Gavrilov D, Hopwood J, Lorey F, Rinaldo P, Oglesbee D.

By October 2013, all 100,000 samples had undergone 1st and 2nd tier testing. Molecular genetic confirmation of presumptive positive cases is ongoing and will allow complete assessment of each assay's performance by February 2014.


66) THE (SURPRISING) PREVALENCE OF 12 LYSOSOMAL STORAGE DISORDERS, FRIEDREICH ATAXIA, WILSON DISEASE AND X-ADRENOLEUKODYSTROPHY IN CALIFORNIA
Dietrich Matern, Silvia Tortorelli, Dimitar Gavrilov, Kimiyo Raymond, Hao Tang, Fred Lorey, Piero Rinaldo, Devin Oglesbee.

Abnormal results were encountered by the primary screen, but 2nd tier testing and/or molecular genetic testing did not confirm a true positive case. Not a single false positive for Friedreich Ataxia was encountered; in fact, the 2nd tier test for frataxin was always normal while testing of known affected patients yielded abnormal results.

The Friedreich's Ataxia Research Alliance Announces That the FDA has Granted Orphan Drug Status for Research of Untreatable Rare Disease, Friedreich's Ataxia

The Friedreich's Ataxia Research Alliance Announces That the FDA has Granted Orphan Drug Status for Research of Untreatable Rare Disease, Friedreich's Ataxia

"This is an important step forward in moving EPI-743 towards approval for the treatment of Friedreich's ataxia."

Downingtown, PA (PRWEB) February 04, 2014: Edison Pharmaceuticals today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug status to vatiquinone (EPI-743) for the treatment of Friedreich’s ataxia




FDA Grants Edison Pharmaceuticals' EPI-743 Orphan Status for Friedreich's Ataxia.

MOUNTAIN VIEW, Calif., Feb. 4, 2014 /PRNewswire/

Fellowship: NMR screening to select compounds that interact with human frataxin

NMR screening to select compounds that interact with human frataxin.

Job details; type Fellowship, Università degli Studi di Roma Tor Vergata, Italy. Expires: February 06, 2014

Graduate student seminar: “Frataxin Stimulates Fe/S Cluster Biosynthesis.”

“Frataxin Stimulates Fe/S Cluster Biosynthesis.”

February 13 @ 12:45 pm - 1:45 pm

Yu Wang will present her PhD research seminar entitled, “Frataxin Stimulates Fe/S Cluster Biosynthesis.”

Sex differences in mitochondrial biogenesis determine neuronal death and survival in response to oxygen glucose deprivation and reoxygenation

Sex differences in mitochondrial biogenesis determine neuronal death and survival in response to oxygen glucose deprivation and reoxygenation; Jaswinder Sharma, Michael V Johnston and Mir Ahamed Hossain; BMC Neuroscience 2014, 15:9 doi:10.1186/1471-2202-15-9

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Spongionella Secondary Metabolites Protect Mitochondrial Function in Cortical Neurons against Oxidative Stress

Spongionella Secondary Metabolites Protect Mitochondrial Function in Cortical Neurons against Oxidative Stress.Leirós M, Sánchez JA, Alonso E, Rateb ME, Houssen WE, Ebel R, Jaspars M, Alfonso A, Botana LM.; Mar Drugs. 2014 Jan 27;12(2):700-18. doi: 10.3390/md12020700.

Oxidative stress is linked to mitochondrial dysfunction and consequently to neurodegenerative disorders like Parkinson and Alzheimer diseases, Friedreich ataxia or Amyotrophic lateral sclerosis. This neuroprotection against oxidation conditions suggest that these metabolites could be interesting lead candidates in drug development for neurodegenerative diseases.

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Mitochondrial ferritin in the regulation of brain iron homeostasis and neurodegenerative diseases

Mitochondrial ferritin in the regulation of brain iron homeostasis and neurodegenerative diseases. Gao G and Chang Y (2014).Front. Pharmacol. 5:19. doi: 10.3389/fphar.2014.00019

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