Aliança internacional d’afectats per l’atàxia de Friedreich per finançar el projecte de teràpia gènica desenvolupat a Espanya.
Científics de l’Institut de Recerca Biomèdica (IRB) i el Centre de Biologia Molecular Severo Ochoa (CBMSO) van iniciar el projecte dos mesos enrere.
El projecte és fruit de la iniciativa d’afectats espanyols units en la plataforma Genefa en col·laboració amb la Federació d’Atàxies d’Espanya i BabelFAmily. Ara, s’hi suma The Friedreich's Ataxia Research Alliance (FARA), una de les principals organitzacions de pacients dels Estats Units.
L’aportació de FARA suposa el 50% del pressupost total de 300.000€ del projecte. Els fons de FARA provenen del suport de les famílies dels pacients i comunitats afins dels EUA, i d'altres agents internacionals com FARA-Irlanda.
FARA (Friedreich's Ataxia Research Aliance) Press Release
Notícies IRB Barcelona
Tuesday, January 28, 2014
Alianza internacional de afectados por la ataxia de Friedreich para financiar el proyecto de terapia génica desarrollado en España
Alianza internacional de afectados por la ataxia de Friedreich para financiar el proyecto de terapia génica desarrollado en España 28 de Enero 2014.
Científicos del Instituto de Investigación Biomédica (IRB) y el Centro de Biología Molecular Severo Ochoa (CBMSO) iniciaron el proyecto dos meses atrás.
El proyecto es fruto de la iniciativa de afectados españoles unidos en la plataforma Genefa en colaboración con la Federación de Ataxias de España y BabelFAmily. Ahora, se suma The Friedreich's Ataxia Research Alliance (FARA), una de las principales organizaciones de pacientes de los Estados Unidos.
La aportación de FARA supone el 50% del presupuesto total de 300.000€ del proyecto. Los fondos de FARA provienen del apoyo de las familias de los pacientes y comunidades afines de los EEUU y otros agentes internacionales como FARA-Irlanda.
FARA (Friedreich's Ataxia Research Aliance) Press release
Noticias IRB Barcelona
Científicos del Instituto de Investigación Biomédica (IRB) y el Centro de Biología Molecular Severo Ochoa (CBMSO) iniciaron el proyecto dos meses atrás.
El proyecto es fruto de la iniciativa de afectados españoles unidos en la plataforma Genefa en colaboración con la Federación de Ataxias de España y BabelFAmily. Ahora, se suma The Friedreich's Ataxia Research Alliance (FARA), una de las principales organizaciones de pacientes de los Estados Unidos.
La aportación de FARA supone el 50% del presupuesto total de 300.000€ del proyecto. Los fondos de FARA provienen del apoyo de las familias de los pacientes y comunidades afines de los EEUU y otros agentes internacionales como FARA-Irlanda.
FARA (Friedreich's Ataxia Research Aliance) Press release
Noticias IRB Barcelona
International patient advocates partner to fund Spanish gene-therapy project to treat Friedreich's ataxia
International patient advocates partner to fund Spanish gene-therapy project to treat Friedreich's ataxia
January 28, 2014
Scientists at the Institute for Research in Biomedicine (IRB) and the “Centro de Biología Molecular Severo Ochoa” (CBMSO) launched the project two months ago.
The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.
The support provided by FARA will account for 50% of the project budget of 300,000 euros. Of note, FARA’s funds come from the support of patient families and communities raising funds at a grassroots level and from other International advocates such as FARA – Ireland.
FARA (Friedreich's Ataxia Research Aliance) Press Release
IRB (Institute for Research in Biomedicine) Press Release
January 28, 2014
Scientists at the Institute for Research in Biomedicine (IRB) and the “Centro de Biología Molecular Severo Ochoa” (CBMSO) launched the project two months ago.
The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.
The support provided by FARA will account for 50% of the project budget of 300,000 euros. Of note, FARA’s funds come from the support of patient families and communities raising funds at a grassroots level and from other International advocates such as FARA – Ireland.
FARA (Friedreich's Ataxia Research Aliance) Press Release
IRB (Institute for Research in Biomedicine) Press Release
FXN GAA repeat expansions in amyotrophic lateral sclerosis
FXN GAA repeat expansions in amyotrophic lateral sclerosis. Naji Rizik, Axel Freischmidt, Albert C. Ludolph, Jochen H. Weishaupt; ournal of Clinical Neuroscience, Available online 27 January 2014. http://dx.doi.org/10.1016/j.jocn.2013.10.029
When homozygously present, an increased number of GAA repeats in the FXN gene results in a severely decreased expression of frataxin, resulting in the manifestation of FRDA. However, even heterozygous expansion of the trinucleotide repeat substantially reduces frataxin expression. Heterozygous expansion carriers are usually normal, but still display an increased risk for pathological glucose tolerance and, thus suggesting that a heterozygous FXN mutation leads to a borderline impairment of specific cell types at risk.
When homozygously present, an increased number of GAA repeats in the FXN gene results in a severely decreased expression of frataxin, resulting in the manifestation of FRDA. However, even heterozygous expansion of the trinucleotide repeat substantially reduces frataxin expression. Heterozygous expansion carriers are usually normal, but still display an increased risk for pathological glucose tolerance and, thus suggesting that a heterozygous FXN mutation leads to a borderline impairment of specific cell types at risk.
Sunday, January 26, 2014
Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia
Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia. Eric C Deutsch, Devin Oglesbee, Nathaniel R Greeley, David R Lynch; J Neurol Neurosurg Psychiatry jnnp-2013-306788Published Online First: 24 January 2014 doi:10.1136/jnnp-2013-306788
Keywords: Frataxin measurements, peripheral tissues, patients, carriers.
Keywords: Frataxin measurements, peripheral tissues, patients, carriers.
Urinary Symptoms and Urodynamics Findings in Patients with Friedreich's Ataxia.
Urinary Symptoms and Urodynamics Findings in Patients with Friedreich's Ataxia. Musegante AF, Almeida PN, Monteiro RT, Barroso U Jr.; Int Braz J Urol. 2013 Nov-Dec;39(6):867-74. doi: 10.1590/S1677-5538.IBJU.2013.06.14
Keywords: LUTS, urinary tract and urodynamics changes, urinary symptoms, Urgency.
Keywords: LUTS, urinary tract and urodynamics changes, urinary symptoms, Urgency.
Saturday, January 25, 2014
Synthetic Analogues of Redox-Enabled Natural Products
Synthetic Analogues of Redox-Enabled Natural Products . Fash, David Michael, Department of Chemistry, University of Virginia; Doctoral Dissertation.
Keywords: Dysfunctional mitochondria, reactive oxygen species (ROS), novel quinone analogues, idebenone analogues, -Tocopherol quinone derivatives, Friedreich’s ataxia.
Keywords: Dysfunctional mitochondria, reactive oxygen species (ROS), novel quinone analogues, idebenone analogues, -Tocopherol quinone derivatives, Friedreich’s ataxia.
Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases
Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases. Mohammadmersad Ghorbani, Simon J. E. Taylor, Mark A. Pook, and Annette Payne; Journal of Nucleic Acids, Volume 2013 (2013), Article ID 689798, 9 pages. http://dx.doi.org/10.1155/2013/689798
Full Text, Open access
Full Text, Open access
Friday, January 24, 2014
Mitochondrial iron–sulfur protein biogenesis and human disease
Mitochondrial iron–sulfur protein biogenesis and human disease; Oliver Stehling, Claudia Wilbrecht, Roland Lill; Biochimie, Available online 23 January 2014. http://dx.doi.org/10.1016/j.biochi.2014.01.010
Keywords:Iron–sulfur cluster; Mitochondrial ISC system; Iron regulation; Genome integrity
Keywords:Iron–sulfur cluster; Mitochondrial ISC system; Iron regulation; Genome integrity
Anaesthesia for orphan disease: combined spinal-epidural anaesthesia in a patient with Friedreich's ataxia
Anaesthesia for orphan disease: combined spinal-epidural anaesthesia in a patient with Friedreich's ataxia. Huercio, Iván; Guasch, Emilia; Brogly, Nicolas; Gilsanz, Fernando; European Journal of Anaesthesiology, January 21, 2014 - Volume Publish Ahead of Print - Issue - ppg
doi: 10.1097/EJA.0000000000000041
doi: 10.1097/EJA.0000000000000041
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