An encouraging report on a study using RNA-targeted therapies in both ALS and SCA2 

Scientists report a significant step toward combatting two degenerative brain diseases. A targeted therapy developed by scientists at University of Utah Health slows the progression of Spinocerebellar Ataxia type 2 (SCA2) in a mouse model of this condition. In a parallel collaborative study, led by researchers at Stanford University, a nearly identical treatment improves the health of mice that model Amyotrophic Lateral Sclerosis (ALS). You can read the press release here

Posted: 18/04/2017

Scientists use gene editing technique to restore production of frataxin protein in mice

Researchers have reported in a recent publication encouraging results about a study where they have successfully corrected a mutated frataxin gene in a mouse model of FA, a model which Dr Mark Pook created with Ataxia UK’s funding. You can find more information and the publication here.

Posted: 05/04/2017

A recent publication is reporting a potential new therapeutic target for Friedreich's ataxia 

RNF126 depletion results in frataxin accumulation in cells derived from FRDA patients, highlighting the relevance of RNF126 as a new therapeutic target for Friedreich's ataxia. A combined therapy aimed to increasing frataxin levels, either by promoting its gene transcription or through gene therapy or protein replacement, and simultaneously interfering with its RNF126-mediated degradation could be envisioned. You can read the full article here

Posted: 03/03/2017