Experts From Government, Industry, Patient Advocacy to Speak at U.S. Conference on Rare Diseases and Orphan Products

Experts From Government, Industry, Patient Advocacy to Speak at U.S. Conference on Rare Diseases and Orphan Products

WASHINGTON, Sept. 28, 2012 /PRNewswire-USNewswire/ -- Patient advocates, industry leaders, medical researchers, government professionals and investors will address together "Shaping the Future Now" at the 2nd annual U.S. Conference on Rare Diseases and Orphan Products in Washington, DC October 22 – 24

Ronald J. Bartek, President / Director / Co-founder, Friedreich's Ataxia Research Alliance is one of the speakers.

"It is unique in that it draws together all stakeholders to address the shared challenge - how to accelerate the development of safe, effective treatments for people with rare diseases."

Protein Stability and Dynamics Modulation: The Case of Human Frataxin

Protein Stability and Dynamics Modulation: The Case of Human Frataxin. Roman EA, Faraj SE, Gallo M, Salvay AG, Ferreiro DU, et al., PLoS ONE 7(9): e45743. doi:10.1371/journal.pone.0045743 (2012)

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Strategies to stimulate motor learning during vocal therapy in neurodegenerative diseases

Strategies to stimulate motor learning during vocal therapy in neurodegenerative diseases,  Estrategias para potenciar el aprendizaje motor en el tratamiento vocal de las enfermedades neurodegenerativas. Rosa M. Bermúdez de Alvear, A. Ginés Martínez Arquero;Revista de Logopedia, Foniatría y Audiología, Available online 24 September 2012

Language ESP

Keywords: Motor learning, Speech motor control, Treatment efficacy, Parkinson's disease, Outcomes generalization, Voice loudness, Neurodegenerative diseases, Lee Silverman voice treatment.

Palabras clave: Aprendizaje motor, Control motor del habla, Eficacia terapéutica, Enfermedad de Parkinson, Generalización de resultados, Intensidad vocal, Enfermedades neurodegenerativas, Tratamiento vocal intensivo.

Friedreich ataxia: more than a mitochondrial iron-sulfur cluster assembly disease

Friedreich ataxia: more than a mitochondrial iron-sulfur cluster assembly disease. Dr Pierre Rustin. IBT and TGPBB International Seminars, Tampereen yliopisto (Finland)

Understanding Friedreich's Ataxia: Insight into the Fe-S Cluster Biogenesis Pathway

Understanding Friedreich's Ataxia: Insight into the Fe-S Cluster Biogenesis Pathway. Andria Rodrigues, Jeremy Cook, Andrew Dancis, Timothy Stemmler. Wayne State University, School of medicine, Graduate Student Research Day (GSRD-XVI), Setember, 27/2012

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The Second Annual EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies) Newsletter EFACTS NEWS

TheSecond Annual EFACTS (European Friedreich’s Ataxia Consortium forTranslational Studies) Newsletter EFACTS NEWS

Relation of Cytosolic Iron Excess to Cardiomyopathy of Friedreich's Ataxia

Relation of Cytosolic Iron Excess to Cardiomyopathy of Friedreich's Ataxia, R. Liane Ramirez, Jiang Qian, Paolo Santambrogio, Sonia Levi, Arnulf H. Koeppen. The American Journal of Cardiology, Available online 20 September 2012.

Keywords: Cardiomyopathy, Friedreich's ataxia, frataxin gene, iron (Fe)-sulfur clusters, sarcoplasmic Fe, cardiomyocyte hypertrophy, fiber necrosis, myocardial scarring, Fe, ferritin, ferroportin, zinc.

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials. Saute JA, Donis KC, Serrano-Munuera C, Genis D, Ramirez LT, Mazzetti P, Pérez LV, Latorre P, Sequeiros J, Matilla-Dueñas A, Jardim LB; Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group. Cerebellum. 2012 Jun;11(2):488-504.

Keywords: systematic review, ataxia scales, natural history, clinical trials,ICARS, SARA, MICARS, BARS, UMSARS, FARS, NESSCA, INAS, CATSYS 2000, AFCS, CCFS CCFSw, SCAFI, FAIS, SARA, ICARS.

Mitochondrial Dynamics in Cardiovascular Health and Disease

Mitochondrial Dynamics in Cardiovascular Health and Disease ; Sang-Bing Ong, Andrew R. Hall, and Derek J. Hausenloy. Antioxidants & Redox Signaling. -Not available-, ahead of print. doi:10.1089/ars.2012.4777.

Keywords: Mitochondria, mitochondrial dynamics, fission and fusion proteins, cardiovascular health and disease, identification of novel therapeutic targets.

Binaural Speech Processing in Individuals with Auditory Neuropathy

Binaural Speech Processing in Individuals with Auditory Neuropathy; Gary Rance, Monique M. Ryan, Peter Carew, Louise A. Corben, Eppie Yiu, Johanna Tan, Martin B. Delatycki; Neuroscience, Available online 13 September 2012.

Keywords: Auditory neuropathy, Friedreich's ataxia, Charcot-Marie-Tooth, Binaural, Spatial processing, (FARS) Friedreich ataxia rating scale, speech reception threshold.