Bill Nye the Science Guy is speaking at the 2024 Annual Ataxia Conference! Register now. LEARN MORE!
Written by Dr. Marija Cvetanovic Edited by Dr. Sriram Jayabal 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 Spinocerebellar ataxia type 3 (SCA3) is a dominantly-inherited, late onset genetic disease Read More…
It’s in our DNA If you were to unravel the tightly wound packages of our genome known as chromosomes, you would find long strings of DNA. The strings are made up of only four different building blocks, compounds abbreviated as adenine (A), thymine (T), guanine (G) and cytosine (C). Picture Read More…
Written by Dr. David Bushart Edited by Dr. Sriram Jayabal How can employment be made more accessible for ataxia patients? What barriers exist? A study of workers and non-workers with ataxia analyzes the benefit of employment, as well as how to reduce risk of injury. A job can often become Read More…
Embryonic and adult stem cells Stem cells are cells that provide new cells during growth, and replace cells that are damaged or lost during life. They have the following two important properties that enable them to do this: The ability to develop (differentiate) into many other, different cell types, for Read More…
Written by Dr. Brenda Toscano Márquez Edited by Dr. Ray Truant ARSACS researchers develop a better “measuring stick”, or disease severity index that can help better assess the progression of motor symptoms and compare different groups of ARSACS patients. How does your doctor know you are sick? In short: measurements. Read More…
To repurpose drugs is to find new ways that they can be applied to treat other conditions and illnesses. Although our knowledge of diseases is greater than ever before, the development of novel therapies has yet to catch up. Drug development is slow, expensive and risky. These challenges have made Read More…
Written by Dr. Ramya Lakshminarayan Edited by Dr. Judit M. Perez Ortiz Cholesterol to the rescue: An alternative approach to treating SCA type 3 using gene therapy. Spinocerebellar ataxia type 3 (SCA3) is a movement disorder that is caused by genetic mutations in a protein named Ataxin-3. Neurons in the Read More…
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. What is prime editing? Prime editing is coined as a “search-and-replace” editing technique that builds on Read More…
Written by Dr. Judit M. Perez Ortiz Edited by Dr. Marija Cvetanovic 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) Read More…
The instructions our bodies need to grow and function are contained in our genes. These instructions are made up of tiny structures called nucleobases. There are four types of nucleobases in DNA: adenine (A), cytosine (C), guanine (G), thymine (T). By putting these four nucleobases in different orders and patterns, Read More…
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