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

You asked, We listened: Introducing SCAsource Spotlights

Hi everyone! This is a quick message from the volunteers behind SCAsource. About a year ago we conducted a feedback study to ask what we were doing well and what we could change or improve. Some of the changes we hoped to introduce back in the spring were delayed due to COVID-19.

But we are so excited to introduce to you one of the changes we are making! We are adding a new article type: SCAsource Spotlights.

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Photo by Alexander Dummer on Pexels.com

One of the things you told us you wanted to know more about was who is doing ataxia research. What labs exist? Where are they located? What questions are they asking? Who are these researchers?

SCAsource Spotlights will be able to shed some light on this. They will be short profiles of ataxia laboratories around the world. In addition to what science is going on in these labs, each Spotlight will also include a fun fact about something that makes that research group unique.

Please let us know how you like this new article type! Our first Spotlight will be on the Watt Lab from McGill University in Montreal, Canada!

If you are from an ataxia lab and want us to do a Spotlight on you, please get in touch with us through our contact page.

Rare Disease Day 2020

Today marks Rare Disease Day, which aims to raise awareness for the 300 million people around the world who live with rare diseases. Spinocerebellar ataxia, Friedreich’s Ataxia, and ARSACS are just a few of the of over 6000 rare diseases that have been identified.

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Image courtesy of RareDiseaseDay.org.

The main goal of raising awareness of Rare Disease Day is to achieve equity for people living with rare diseases. By their nature, people living with rare diseases can run into a number of barriers in health care systems designed for common diseases.  This includes access to diagnosis, ongoing care, and treatment. Folks can also face discrimination when attending school or at work.

Today is a call to action for people with rare diseases to have equal opportunities in work and social life, as well as access to health care and treatment.

Text that reads: "Rare disease currently affect 5% of the worldwide population. Source: Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. #RareDiseaseDay"
Image courtesy of RareDiseaseDay.org

For more information, including milestones in achieving equity, actions you can take to advocate for equity, and a list of events occurring worldwide, visit RareDiseaseDay.org.

Last chance to participate in our reader feedback survey!

Our reader feedback survey closes on Monday, December 2 at 7:00AM. If you haven’t had the chance yet to give your feedback, you can read more information about the survey study here and access the online survey at this link.

Thank you in advance, your feedback is invaluable! And thank you to all who have already filled out the survey. We are excited to use this data to help make SCAsource the best it can be.

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An image representing survey results. Photo by Lukas on Pexels.com