Ian H. Harding1, Louise A. Corben, Elsdon Storey, Gary F. Egan, Monique R. Stagnitti, Govinda R. Poudel, Martin B. Delatycki and Nellie Georgiou-Karistianis. Hum. Brain Mapp.. doi: 10.1002/hbm.23034
These fronto-cerebellar disturbances provide a putative biological basis for the nonmotor symptoms observed in FRDA, and reflect the consequence of localized cerebellar pathology to distributed brain function underlying higher-order cognition
Tuesday, October 27, 2015
Tuesday, October 20, 2015
URINARY, BOWEL AND SEXUAL FUNCTION IN PATIENTS WITH FRIEDREICH'S ATAXIA
Meher Lad, Michael Parkinson, Myriam Rai, Massimo Pandolfo, Sinead Murphy, Anton Emmanuel, Jalesh Panicker, Paola Giunti; J Neurol Neurosurg Psychiatry 2015;86:e4 doi:10.1136/jnnp-2015-312379.74
Urinary and lower gastro-intestinal symptoms can have a severe impact on patients with FRDA although they are under-recognised.
Urinary and lower gastro-intestinal symptoms can have a severe impact on patients with FRDA although they are under-recognised.
Monday, October 19, 2015
Compassionate use of orphan drugs
Hanna I. Hyry, Jeremy Manuel, Timothy M. Cox and Jonathan C. P. Roos; Orphanet Journal of Rare Diseases 2015, 10:100 doi:10.1186/s13023-015-0306-x
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Compelling self-interested, legal and ethical arguments can be mounted to encourage manufacturers to offer therapies on a compassionate use basis and these are often equally applicable to provision on a humanitarian aid basis. The EU’s compassionate use programmes are instrumental in ensuring continuity of access to drugs until approval and reimbursement decisions are finalised.
OPEN ACCESS
Compelling self-interested, legal and ethical arguments can be mounted to encourage manufacturers to offer therapies on a compassionate use basis and these are often equally applicable to provision on a humanitarian aid basis. The EU’s compassionate use programmes are instrumental in ensuring continuity of access to drugs until approval and reimbursement decisions are finalised.
Sunday, October 18, 2015
Patient-Funded Trials: Opportunity or Liability?
Danielle Marie Wenner, Jonathan Kimmelman, Alex John London, Patient-Funded Trials: Opportunity or Liability?, Cell Stem Cell, Volume 17, Issue 2, 6 August 2015, Pages 135-137, ISSN 1934-5909, doi:10.1016/j.stem.2015.07.016.
The goals of Patient-Funded Trials to empower patients, expand available research resources, and accelerate the pace of translation are worthy and important objectives. Because the current system lacks regulations or incentives that constructively channel the desires of patients, the ardor of investigators, and the profit motives of host clinics, this funding model harbors important liabilities for both patients and the broader clinical research enterprise.
The goals of Patient-Funded Trials to empower patients, expand available research resources, and accelerate the pace of translation are worthy and important objectives. Because the current system lacks regulations or incentives that constructively channel the desires of patients, the ardor of investigators, and the profit motives of host clinics, this funding model harbors important liabilities for both patients and the broader clinical research enterprise.
Thursday, October 15, 2015
Next generation partnerships in translational science and medicine
Hans‐Gustaf Ljunggren, Kenneth R Chien, EMBO reports (2015) 16, 1246-1249 DOI 10.15252/embr.201541065
Partnerships between academics, big pharma, biotech firms, philanthropists and patients look set to change the way science advances.
Interestingly, the focus of many of these partners is not so much to “translate” existing knowledge per se into medical progress, but more to foster “transcriptional medicine” by directly funding primary research and development at the early stages and by providing substantial resources to translate their own discoveries into cures for affected patient populations.
Partnerships between academics, big pharma, biotech firms, philanthropists and patients look set to change the way science advances.
Interestingly, the focus of many of these partners is not so much to “translate” existing knowledge per se into medical progress, but more to foster “transcriptional medicine” by directly funding primary research and development at the early stages and by providing substantial resources to translate their own discoveries into cures for affected patient populations.
Monday, October 12, 2015
María Dolores Moltó: “La investigación en ataxia de Friedreich se dirige hacia la obtención de tratamientos efectivos”
Por GENÉTICA MÉDICA · 11 de octubre de 2015
¿Estamos más cerca de un tratamiento efectivo?
Si pensamos que cuando se identificó el gen no se tenía ninguna idea de cuál podría ser su función y que ahora ya se está evaluando el efecto terapéutico de un número importante de moléculas, mi respuesta es que sí. Pero también es cierto, que a pesar de los años de investigación todavía no se ha conseguido un tratamiento que sea realmente eficaz. No es nada fácil el tratamiento de las enfermedades genéticas, pero está claro que hoy conocemos qué les ocurre a las células sin frataxina y por lo tanto, se está en disposición de poder desarrollar estrategias que sean realmente útiles para el tratamiento de esta enfermedad. Leer mas....
¿Estamos más cerca de un tratamiento efectivo?
Si pensamos que cuando se identificó el gen no se tenía ninguna idea de cuál podría ser su función y que ahora ya se está evaluando el efecto terapéutico de un número importante de moléculas, mi respuesta es que sí. Pero también es cierto, que a pesar de los años de investigación todavía no se ha conseguido un tratamiento que sea realmente eficaz. No es nada fácil el tratamiento de las enfermedades genéticas, pero está claro que hoy conocemos qué les ocurre a las células sin frataxina y por lo tanto, se está en disposición de poder desarrollar estrategias que sean realmente útiles para el tratamiento de esta enfermedad. Leer mas....
A Yeast/Drosophila Screen to Identify New Compounds Overcoming Frataxin Deficiency
Alexandra Seguin, Véronique Monnier, Amandine Palandri, Frédéric Bihel, Michael Rera, Martine Schmitt, Jean-Michel Camadro, Hervé Tricoire, and Emmanuel Lesuisse; Oxidative Medicine and Cellular Longevity, Volume 2015 (2015), Article ID 565140, 10 pages DOI: 10.1155/2015/565140
The unique complementarity of these two frataxin-deficient models, unicellular and multicellular, appears to be very efficient to select new compounds with improved selectivity, bringing significant perspectives towards improvements in FA therapy.
The unique complementarity of these two frataxin-deficient models, unicellular and multicellular, appears to be very efficient to select new compounds with improved selectivity, bringing significant perspectives towards improvements in FA therapy.
Saturday, October 10, 2015
Acoustic Analyses of Prolonged Vowels in Young Adults With Friedreich Ataxia
Cecyle Carson, Jack Ryalls, Kaylea Hardin-Hollingsworth, Marie-Therese Le Normand, Bari Ruddy, Journal of Voice, Available online 9 October 2015, ISSN 0892-1997, doi:10.1016/j.jvoice.2015.05.008.
The purpose of this study was to determine which cepstral- and spectral-based measures extracted from prolonged vowels using Analysis of Dysphonia in Speech and Voice (ADSV) program discriminate between those who have FA and normal voice (NV) peers.
The purpose of this study was to determine which cepstral- and spectral-based measures extracted from prolonged vowels using Analysis of Dysphonia in Speech and Voice (ADSV) program discriminate between those who have FA and normal voice (NV) peers.
Tuesday, October 6, 2015
Joint preserving surgery versus arthrodesis in operative treatment of patients with neuromuscular polyneuropathy: questionnaire assessment
Marek Napiontek , Krzysztof Pietrzak; European Journal of Orthopaedic Surgery & Traumatology February 2015, Volume 25, Issue 2, pp 391-397 DOI 10.1007/s00590-014-1498-9
The purpose of the paper was to present the results of surgical treatment of foot deformities in peripheral neuropathies using bone procedures: both joint preserving and with joint arthrodesis. The study included patients presented Charcot–Marie–Tooth disease, Friedreich’s ataxia and peripheral motor and sensory neuropathies of undetermined nature. The results show that none of the surgical techniques used for correction of foot deformities in motor-sensory polyneuropathies seems to be preferable.
The purpose of the paper was to present the results of surgical treatment of foot deformities in peripheral neuropathies using bone procedures: both joint preserving and with joint arthrodesis. The study included patients presented Charcot–Marie–Tooth disease, Friedreich’s ataxia and peripheral motor and sensory neuropathies of undetermined nature. The results show that none of the surgical techniques used for correction of foot deformities in motor-sensory polyneuropathies seems to be preferable.
Monday, October 5, 2015
Pathology of Intercalated Discs in Friedreich Cardiomyopathy
R. Liane Ramirez, MS; Alyssa B. Becker, BA; Joseph E. Mazurkiewicz, PhD; Paul J. Feustel, PhD; Benjamin B. Gelman, MD, PhD; Arnulf H. Koeppen, MD, J Am Coll Cardiol. 2015;66(15):1739-1740. doi:10.1016/j.jacc.2015.06.1355
The underlying mutation in FA causes frataxin deficiency, which may adversely affect ICDs and GJs before the onset of heart disease and perhaps prenatally.
The underlying mutation in FA causes frataxin deficiency, which may adversely affect ICDs and GJs before the onset of heart disease and perhaps prenatally.
Friday, October 2, 2015
Cold Denaturation Unveiled: the Molecular Mechanism of Asymmetric Unfolding of Yeast Frataxin
Domenico Sanfelice, Edoardo Morandi, Annalisa Pastore, Neri Niccolai andPiero Andrea Temussi; ChemPhysChem 1439-7641 (2015), DOI 10.1002/cphc.201500765
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