Harald H.H.W. Schmidt, Roland Stocker, Claudia Vollbracht, Gøran Paulsen, Dennis Riley, Andreas Daiber and Antonio Cuadrado; Antioxid Redox Signal. 2015 November 10; 23(14): 1130–1143.
doi: 10.1089/ars.2015.6393
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Wednesday, December 9, 2015
Tuesday, December 8, 2015
Friedreich Ataxia (Chapter 13)
Mary Kay Koenig, Chapter 13 - In Mitochondrial Case Studies, edited by Russell P. SanetoSumit ParikhBruce H. Cohen, Academic Press, Boston, 2016, Pages 103-112, ISBN 9780128008775, doi:10.1016/B978-0-12-800877-5.00013-9.
Diagnostic considerations, clinical presentation, pathophysiology, and treatment options are discussed.
Diagnostic considerations, clinical presentation, pathophysiology, and treatment options are discussed.
Monday, December 7, 2015
Analyzing the Effects of a G137V Mutation in the FXN Gene
Nathalie Faggianelli, Rita Puglisi, Liana Veneziano, Silvia Romano, Marina Frontali, Tommaso Vannocci, Silvia Fortuni, Roberto Testi and Annalisa Pastore, Front. Mol. Neurosci., 25 November 2015 | doi:10.3389/fnmol.2015.00066
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This study analyze the effects of a point mutation G137V
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This study analyze the effects of a point mutation G137V
Sunday, December 6, 2015
IFN-γ for Friedreich ataxia: present evidence.
McKenzie Wells, Lauren Seyer, Kimberly Schadt & David R Lynch; Neurodegenerative Disease Management, Posted online on December 4, 2015, doi:10.2217/nmt.15.52
Friday, December 4, 2015
Systematic review and clinical recommendations for dosage of supported home-based standing programs for adults with stroke, spinal cord injury and other neurological conditions
Ginny Paleg and Roslyn Livingstone. BMC Musculoskelet Disord. 2015; 16: 358. Published online 2015 Nov 17. doi: 10.1186/s12891-015-0813-x
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Wednesday, December 2, 2015
GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFNγ administration in FRDA patients.
Christian Marcotulli, Silvia Fortuni, Gaetano Arcuri, Barbara Tomassini, Luca Leonardi, Francesco Pierelli, Roberto Testi, Carlo Casali; Neurological Sciences pp 1-4 First online: 30 November 2015, DOI: 10.1007/s10072-015-2427-3
IFNγ was generally well tolerated, the main adverse event was hyperthermia/fever. Although, increases in frataxin levels could be detected in a minority of patients, these changes were not significant.
Frataxin levels was mesured in peripheral blood multinuclear cells, this are a cell compartment easily accessible but not involved in the disease, In opinion of the researchers it's questionable if it's a real mirror of what happens in sensory neurons, additional and better biomarkers are needed.
IFNγ was generally well tolerated, the main adverse event was hyperthermia/fever. Although, increases in frataxin levels could be detected in a minority of patients, these changes were not significant.
Frataxin levels was mesured in peripheral blood multinuclear cells, this are a cell compartment easily accessible but not involved in the disease, In opinion of the researchers it's questionable if it's a real mirror of what happens in sensory neurons, additional and better biomarkers are needed.
Tuesday, December 1, 2015
Dr Evans–Galea, a leader in the field of gene therapy, talks about the challenges she has faced, but also the increasing visibility of female scientists in her field, and her professional mission: finding a cure for Friedrich ataxia
www.theguardian.com, interview by Brigid Delaney, Tuesday 1 December
The FXN gene was first discovered in the 90s, and there are potential treatments in development. Since then, it has become like a puzzle I couldn’t put down.
The FXN gene was first discovered in the 90s, and there are potential treatments in development. Since then, it has become like a puzzle I couldn’t put down.
La phase de double appui : paramètre prédictif de la dégradation de la marche dans l’ataxie de Friedreich ?
B. Roche, R. Martin, I. Husson, Neurophysiologie Clinique/Clinical Neurophysiology, Volume 45, Issues 4–5, November 2015, Pages 403-404, ISSN 0987-7053, doi: 10.1016/j.neucli.2015.10.040
Alors que l’ICARS n’a pas saisi de dégradation significative, le tapis de marche GAITRite a révélé quant à lui une détérioration significative du double appui, paramètre représentatif, quand il augmente, d’une instabilité à la marche.
Alors que l’ICARS n’a pas saisi de dégradation significative, le tapis de marche GAITRite a révélé quant à lui une détérioration significative du double appui, paramètre représentatif, quand il augmente, d’une instabilité à la marche.
Monday, November 30, 2015
Gene-editing tool CRISPR opens a world of possibilities for rare genetic diseases
CRISPR gene-editing tool has scientists thrilled — but nervous. By Kelly Crowe, CBC News Posted: Nov 30, 2015 5:00 AM ET
The CRISPR system allows anyone with basic molecular biology training to edit the genome with a pinpoint precision not possible before, in addition CRISPR editing is relatively cheap once established.
Much remains to be done in scientific and legal aspects, would be able to eradicate human gene mutations from all future generations?. There is also a strong ethical concern, it could be used to cure genetic diseases or also for eugenic purposes.
The CRISPR system allows anyone with basic molecular biology training to edit the genome with a pinpoint precision not possible before, in addition CRISPR editing is relatively cheap once established.
Much remains to be done in scientific and legal aspects, would be able to eradicate human gene mutations from all future generations?. There is also a strong ethical concern, it could be used to cure genetic diseases or also for eugenic purposes.
Wednesday, November 25, 2015
Access to Orphan Drugs: A Comprehensive Review of Legislations, Regulations and Policies in 35 Countries
Gammie T, Lu CY, Babar ZU-D (2015), PLoS ONE 10(10): e0140002., doi:10.1371/journal.pone.0140002
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Access to orphan drugs depends on individual country’s pricing and reimbursement policies, which varied widely between countries. High prices and insufficient evidence often limit orphan drugs from meeting the traditional health technology assessment criteria, especially cost-effectiveness, which may influence access.
Overall many countries have implemented a combination of legislations, regulations and policies for orphan drugs in the last two decades. While these may enable the availability and access to orphan drugs, there are critical differences between countries in terms of range and types of legislations, regulations and policies implemented.
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Access to orphan drugs depends on individual country’s pricing and reimbursement policies, which varied widely between countries. High prices and insufficient evidence often limit orphan drugs from meeting the traditional health technology assessment criteria, especially cost-effectiveness, which may influence access.
Overall many countries have implemented a combination of legislations, regulations and policies for orphan drugs in the last two decades. While these may enable the availability and access to orphan drugs, there are critical differences between countries in terms of range and types of legislations, regulations and policies implemented.
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