Today marks International Ataxia Awareness Day, which is celebrated every year on September 25th. IAAD brings people together from around the world to raise awareness about this group of rare diseases and to raise money for continuing research efforts.
Here at SCAsource, we are celebrating International Ataxia Awareness Day 2020 by highlighting our top ten most-read articles from this year. We hope you enjoy reading these throwbacks!
10. A New Use for Old Drugs
Basic biology helps identify a new treatment for ataxia. Work from groups in Michigan and California show in mice that not all medications that improve disease symptoms in the short term will continue to do so in the long term
9. How an ataxia gene increases the risk for Alzheimer’s disease
In a tour de force study, a collaborative team of scientists led by Dr. Rudolph Tanzi (Harvard Medical School) and Dr. Huda Zhogbi (Baylor College of Medicine) found a novel relationship between the Spinocerebellar ataxia type 1 gene (ATXN1) and Alzheimer’s disease.
8. A Potential Treatment for Universal Lowering of all Polyglutamine Disease Proteins
One drug to treat them all: an approach using RNA interference to selectively lower the amount of mutant protein in all polyglutamine diseases. Work by a group in Poland shows initial success in Huntington’s Disease, DRPLA, SCA3/MJD, and SCA7 patient cells.
7. A novel gene therapy-based approach with therapeutic potential in SCA3
Cholesterol to the rescue: An alternative approach to treating SCA type 3 using gene therapy.
6. Snapshot: What is Omaveloxolone?
A new therapeutic compound shows promise to treat Friedrich’s Ataxia. But what exactly does Omaveloxolone do in the body? What next steps are being taken to test it?
5. Byproducts of canola oil production show therapeutic potential for MJD and Parkinson’s Disease
Collaboration between researchers in Portugal and the United Kingdom discovers that a canola oil by-product shows promise, corrects MJD/SCA3 and Parkinson’s Disease symptoms in animal models.
4. Snapshot: The next-generation of CRISPR is prime editing – what you need to know
The CRISPR gene-editing toolbox expanded with the addition of prime editing. Prime editing has astounding potential for both basic biology research and for treating genetic diseases by theoretically correcting ~89% of known disease-causing mutations.
3. Two or more birds with one stone: Designing a single therapeutic strategy to treat multiple types of spinocerebellar ataxia
A newly-proposed treatment strategy might be effective against several forms of spinocerebellar ataxia and other CAG repeat-associated disorders
2. Sunrise of Gene Therapy for Friedreich’s Ataxia
Researchers from the University of California show they can “edit” the Frataxin gene in human cells from Friedreich’s Ataxia and transplant them into mice. This lays the groundwork for this method to be tested for safety.
1. Gene Therapy Validated In Human SCA3 Stem Cells
A research group in Michigan report the creation of the first NIH-approved human cell model that mirrors SCA3 disease features – cellular defects that, after gene therapy, show improvement