Project title: Characterising gait and upper limb disorder in Friedreich ataxia

Monash University will launch a new study about Friedreich's ataxia

"This project will enable both clinical and quantified gait and upper limb kinematic assessment and may provide a sensitive measure of functional change in FRDA against which the efficacy of novel interventions can be tested down the track".

Infectious delivery and long-term persistence of transgene expression in the brain by a 135-kb iBAC-FXN genomic DNA expression vector.

Gene Therapy, 14 April 2011; doi:10.1038/gt.2011.45.

Gimenez-Cassina A, Wade-Martins R, Gomez-Sebastian S, Corona JC, Lim F, Diaz-Nido J.

Department of Molecular Neurobiology, Centro de Biología Molecular Severo Ochoa, Cantoblanco, Spain.

Keywords: FRDA, gene-based therapies, long-term persistent transgene expression, entire 135 kb FXN genomic DNA locus, bacterial artificial chromosome (iBAC), herpes simplex virus type 1 (HSV-1), -based vector.

Intellect Neurosciences Files Orphan Drug Application in the United States for Its Clinical Candidate OX1 for the Treatment of Friedreich's Ataxia

NEW YORK, April 12, 2011 (GLOBE NEWSWIRE) -- Intellect Neurosciences, Inc. announced today that it has filed an orphan drug application with the Office of Orphan Products Development of the United States Food and Drug Administration (FDA) to have Orphan Drug Designation granted to its clinical stage drug candidate, OX1 (OXIGON™) for the treatment of Friedreich's Ataxia ("FA").

Mitochondria as a Therapeutic Target for Aging and Neurodegenerative Diseases

Curr Alzheimer Res. 2011 Apr 6.

Reddy PH, Reddy TP.
Neurogenetics Laboratory, Division of Neuroscience, Oregon National Primate Research Center, Oregon Health & Science University

Keywors: Mitochondria, postmortem brain studies, clinical studies, aging, neurodegenerative diseases, phosphorylation, mitochondrial DNA defects, mitochondrial fragmentation, decreased mitochondrial fusion.

New Method Delivers Drug to the Brain

Deliver complex drug into the the CNS is a challenge, the CNS is strongly protected by the BBB, and many substances with therapeutic high potential, frataxin, or even gene therapy, are not useful if they can not reach their therapeutic targets. It is very important to have methods to achieve this goal.

New Method Delivers Alzheimer’s Drug to the Brain
ScienceDaily (Apr. 5, 2011) — Oxford University scientists have developed a new method for delivering complex drugs directly to the brain, a necessary step for treating diseases like Alzheimer's, Parkinson's, Motor Neuron Disease and Muscular Dystrophy. read more...

Original paper: Delivery of siRNA to the mouse brain by systemic injection of targeted exosomes., Nature Biotechnology, 2011; DOI: 10.1038/nbt.1807
Lydia Alvarez-Erviti, Yiqi Seow, HaiFang Yin, Corinne Betts, Samira Lakhal & Matthew J A Wood.
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.

Mitochondria regulate autophagy by conserved signalling pathways

The EMBO Journal advance online publication 5 April 2011; doi:10.1038/emboj.2011.104

Martin Graef and Jodi Nunnari,
Department of Molecular and Cellular Biology, Davis University of California, USA

Keywords: autophagy regulation, mitochondria, protein kinase A, TOR, cellular homeostasis, mitochondrial respiratory deficiency, autophagy gene induction, neurodegeneration.

Modern Surgery For Scoliosis Has Good Long-Term Outcomes

Medical News Today, Article Date: 05 Apr 2011,

Teenagers who undergo spine fusion for scoliosis using the newest surgical techniques can expect to be doing well 10 years after surgery, according to a Hospital for Special Surgery study published online ahead of print in the TK issue of the journal Spine. Read more...

Could thiazolidinediones increase the risk of heart failure in Friedreich's ataxia patients?

Movement Disorders, 26: n/a. doi: 10.1002/mds.23711

García-Giménez, J. L., Sanchis-Gomar, F. and Pallardó, F. V.

CIBERER, Biomedical Network Research Centre on Rare Diseases, Valencia, Spain
Department of Physiology, Faculty of Medicine, University of Valencia, Valencia, Spain
Fundación del Hospital Clínico Universitario de Valencia. FIHCUV-INCLIVA, Valencia, Spain

Keywords: Friedreich's ataxia; rare disease; neurological symptoms; hypertrophic cardiomyopathy; rosiglitazone; pioglitazone; heart failure; peroxisome proliferator-activated receptor-gamma coactivator-1α.

Patient's Own Cells May Hold Therapeutic Promise After Reprogramming, Gene Correction

ScienceDaily (Apr. 4, 2011) — Scientists from the Morgridge Institute for Research, the University of Wisconsin-Madison, the University of California and the WiCell Research Institute moved gene therapy one step closer to clinical reality by determining that the process of correcting a genetic defect does not substantially increase the number of potentially cancer-causing mutations in induced pluripotent stem cells.

Read more

Younger Cardiac Patients Benefit From Hypothermia Therapy

Medical News Today, 04 Apr 2011

Young adult patients with genetic heart diseases, such as hypertrophic cardiomyopathy (HCM), substantially benefitted from therapeutic hypothermia, which could further extend the role for this treatment strategy in new patient populations. read more....
(Source: Minneapolis Heart Institute Foundation)