Poster: BDNF function in health and disease

Poster: BDNF function in health and disease

This poster is freely available thanks to support from EVER Neuro Pharma.

High-resolution PDF (167 KB)

Characterization of biometal - profiles in neurological disorders

Characterization of biometal - profiles in neurological disorders. Stefanie Pfaender and Andreas M Grabrucker; Metallomics, 2014,
DOI: 10.1039/C4MT00008K

Accelerating development, registration and access to medicines for rare diseases in the European Union through adaptive approaches: features and perspectives

Accelerating development, registration and access to medicines for rare diseases in the European Union through adaptive approaches: features and perspectives. David Uguen, Thomas Lönngren, Yann Le Cam, Sarah Garner, Emmanuelle Voisin, Carlo Incerti, Marc Dunoyer and Moncef Slaoui; Orphanet Journal of Rare Diseases 2014, 9:20 doi:10.1186/1750-1172-9-20

OPEN ACCESS, FULL TEXT PDF

Nucleoside 5’-phosphorothioate derivatives are highly effective neuroprotectants

Nucleoside 5’-phosphorothioate derivatives are highly effective neuroprotectants. O. Danino, N. Giladi,S. Grossman, B. Fischer; Biochemical Pharmacology. Available online 15 February 2014. http://dx.doi.org/10.1016/j.bcp.2014.02.001

Voyager Lifts Off With $45M From Third Rock Ventures

Voyager Lifts Off With $45M From Third Rock Ventures. By Paul Bonanos, The pink Sheet, February 12 2014

Voyager hopes to have three programs in the clinic by early 2017, targeting Parkinson’s, ALS and Friedreich’s ataxia.

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

FULL TEXT PDF

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/