International Ataxia Awareness Day 2020

logo of International Ataxia Awareness Day: a globe with multiple people from around the world marked on it
Image courtesy of the National Ataxia Foundation.

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

International Ataxia Awareness Day 2019

Today marks International Ataxia Awareness Day (IAAD), 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. For more information on how you can participate in IAAD this year, take a look at the National Ataxia Foundation’s event page.

group of people, including some wheelchair users, stand in a circle holding their hands up. They are happy. Overtop is the IAAD2019 logo and website. www.ataxia.org
Image courtesy of the NAF.

Here at SCAsource, we are celebrating IAAD 2019 by highlighting our top ten most-read articles from this year. We hope you enjoy reading these throwbacks!

10. Decreasing ATXN3 levels can alleviate some symptoms in an SCA3 mouse model

Antisense oligonucleotides: a potential treatment for SCA3 that partially rescues SCA3 disease mouse models.

9. The Discovery of SCA8

How one team uncovered the first SCA known to be caused by a CTG repeat expansion mutation.

8. Approaching the age of clinical therapy for spinocerebellar ataxia type 1

New research (published Nov. 2018) reveals promising potential genetic therapy for SCA1.

7. Protein kinase C to the Rescue in Spinocerebellar Ataxias

Protein kinase C: one protein that may help to protect against cerebellar neuronal dysfunction & death in spinocerebellar ataxias.

6. Early Cerebellum Development Abnormality in Adult-Onset Spinocerebellar Ataxia Type 1

Researchers for the first time identified that spinocerebellar ataxia type 1 (SCA1) may have roots in early cerebellar circuit malfunction.

5. Snapshot: What are Clinical Trials?

Ever wonder what clinical trial “phases” mean? Why do trials need so many phases? How does this help test how safe a new treatment is? Here’s a quick overview of how drugs get from an idea in a research lab to market.

4. Dynamic duo strikes again – Orr and Zoghbi discover the primary driver of SCA1 pathology in the cerebellum

Research group uncovers the key molecular interaction that causes spinocerebellar ataxia type 1 (SCA1).

3. ASOs clear toxic protein from cells, reducing ataxia in SCA2 mice

Scientists uncover a promising therapeutic avenue to treat spinocerebellar ataxia type 2 (SCA2).

2. A novel therapeutic approach for the treatment of SCA3 

Researchers in the Netherlands uncover a new way to treat SCA3.

And last, but certainly not least:

1. Accidental discovery reveals possible link between cerebellar function and motivation

Stanford researchers accidentally discover a new role (reward prediction) for the cerebellum, the primary brain region affected by spinocerebellar ataxias.

logo of IAAD2019: a globe with multiple people from around the world marked on it