Research Fellowship: Visual dissection of GAA-mediated mechanisms of FRDA repression and identification of novel candidate factors involved in frataxin function

Principal Researchers: Dr Michele Lufino and Dr Richard Wade-Martins,
Department of Physiology, Anatomy and Genetics, University of Oxford.

Developing a Balanced Business Model for Gene Therapy

HUMAN GENE THERAPY 22:1–4 (June 2011),DOI: 10.1089/hum.2011.2504

"Research and outcomes like these give hope not only to patients, but to doctors who have spent years developing gene therapies for diseases that have not responded as well to traditional therapy.The promise shown by the results also create hope that gene therapy can finally emerge as avibrant segment, after years in which biopharma companies, physicians, insurers, and government regulators have struggled to develop a sustainable business model."

Full text pdf

Friedreich's Ataxia: Phenotypic variability: 4-case reports (two sets of siblings)

Published in Fisioterapia. 2010;32:190-4. - vol.32 núm 04
Gago Fernández, I.; Seco Calvo, J.

Keywords: clinical phenotype, Friedreich's Ataxia, activities of Daily Life, Health Quality of Life, Questionnaire of Health, multisystem involvement, phenotypic variability.

An investigation to determine the efficacy and safety of lentivirus mediated FXN gene delivery for the correction of Friedreich ataxia

Principal researchers: Dr Mark Pook and Dr Michael Themis Brunel University,
Uxbridge, UK

In children with Friedreich ataxia, muscle and ataxia parameters are associated

Developmental Medicine & Child Neurology, 53: 529–534. doi: 10.1111/j.1469-8749.2011.03931.x (Article first published online: 16 MAY 2011)

SIVAL, D. A., POUWELS, M. E., VAN BREDERODE, A., MAURITS, N. M., VERSCHUUREN-BEMELMANS, C. C., BRUNT, E. R., DU MARCHIE SARVAAS, G. J., VERBEEK, R. J., BROUWER, O. F. and VAN DER HOEVEN, J. H. (2011).

Keywords: Friedreich ataxia (FRDA), ataxia, International Cooperative Ataxia Rating Scale (ICARS), muscle weakness, muscle ultrasound density (MUD), muscle force, sensory evoked potentials, and ICARS scores, FXN gene analysis, persistently absent sensory evoked potentials, leg muscle force.

Next Generation Gamers: Computer Games Aid Recovery From Stroke

Could be also useful in the FA rehabilitation?

Medical News Today. 15 May 2011
Computer games are not just for kids. New research published in Journal of NeuroEngineering and Rehabilitation, a BioMed Central open access journal, shows that computer games can speed up and improve a patient's recovery from paralysis after stroke.

Scientific paper:
"Robotically Facilitated Virtual Rehabilitation of Arm Transport Integrated With Finger Movement in Persons with Hemiparesis"
Alma S Merians, Gerard G Fluet, Qinyin Qiu, Soha Saleh, Ian Lafond, Amy Davidow and Sergei V Adamovich
Journal of NeuroEngineering and Rehabilitation (in press)

Santhera Presents Positive Data from IONIA Open-Label Extension Study in Friedreich's Ataxia at the Fourth International Friedreich's Ataxia Scientific Conference

Liestal, Switzerland, May 5, 2011 – Santhera Pharmaceuticals (SIX: SANN) announced today that it will present positive data from an open-label extension study (IONIA-E) evaluating Ca-tena® for the treatment of Friedreich’s Ataxia. The findings indicate that Catena® can offer therapeutic benefit to pediatric patients by improving overall neurological function, particu-larly fine motor skills, and speech. Data will be presented by the principal investigator of the study, Dr. David Lynch from Children’s Hospital of Philadelphia (CHOP) on May 7 2011 in Strasbourg, France at the 4th International Friedreich’s Ataxia Scientific Conference [1].

Translational Research Projects: University of Innsbruck

Rainer Schneider, Institute of Biochemistry, Department of Neurology, Medical University of Innsbruck, (13.05.2011)


Translational Research Program
TRP233 Mechanism of Frataxin increase dependent on Erythropoietin

Keywords Friedreich Ataxia, erythropoietin, Translation, MID1/alpha4, frataxin, mTOR



Translational-Research-Projekte:


Rainer SCHNEIDER, Institut für Biochemie
Mechanismus Erythropoietin-abhängiger Frataxin-Erhöhung


Außerdem werden zwei Translational-Research-Projekte mit insgesamt rund 700.000 Euro gefördert. Das Translational-Research-Programm dient zur Förderung weiterführender bzw. orientierter Grundlagenforschung an der Schnittstelle zur angewandten Forschung, die auf selbst gewonnenen wissenschaftlichen Erkenntnissen bzw. (bei Projekten an der Schnittstelle zwischen Kunst und Wissenschaft) auf eigener künstlerischer Tätigkeit aufbaut, auf konkrete Anwendungsziele oder/und einen zu entwickelnden wirtschaftlichen, gesellschaftlichen oder kulturellen Nutzen ausgerichtet ist.

ALTERED ZINC TRANSPORT DISRUPTS MITOCHONDRIAL PROTEIN PROCESSING/IMPORT IN FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME.

Hum Mol Genet. 2011 May 10. [Epub ahead of print]

Napoli E, Ross-Inta C, Wong S, Omanska-Klusek A, Barrow C, Iwahashi C, Garcia-Arocena D, Sakaguchi D, Berry-Kravis E, Hagerman R, Hagerman PJ, Giulivi C.
Source

Department of Molecular Biosciences, School of Veterinary Medicine.

Keywords: Fragile X-associated tremor/ataxia syndrome (FXTAS), common phenotypic traits shared by Friedreich's ataxia, gait ataxia, loss of coordination, iron homeostasis, mature frataxin protein expression, zinc, iron, desferrioxamine.

Early Changes in Left Ventricular Long-Axis Function in Friedreich Ataxia: Relation with the FXN Gene Mutation and Cardiac Structural Change

Journal of the American Society of Echocardiography, In Press, Corrected Proof, Available online 12 May 2011, doi:10.1016/j.echo.2011.04.004

Philip M. Mottram, Martin B. Delatycki, Lesley Donelan, John S. Gelman, Louise Corben and Roger E. Peverill

Keywords: Friedreich ataxia (FRDA), GAA triplet expansion, FXN gene, LV systolic dysfunction, Echocardiography, Left ventricular hypertrophy, Systole, Tissue Doppler imaging.