NAF has launched a petition on Change.org calling on the FDA to prioritize treatment options for rare diseases with urgent unmet needs, including Spinocerebellar Ataxia (SCA).
SIGN THE PETITION
What is the blood-brain barrier? Blood circulates throughout the body in tubes called blood vessels, delivering oxygen and essential nutrients to different organs. However, not all things that circulate through the body can get into the brain. The blood vessels of the brain are slightly different. Their walls have a Read More…
Written by Dr. Marija Cvetanovic Edited by Dr. Ronald Buijsen 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. Friedreich’s ataxia is a Read More…
Written by Dr Hannah Shorrock Edited by Larissa Nitschke Repeat interruptions in SCA10 influence repeat tract stability and are associated with epileptic seizures Multiple spinocerebellar ataxias (SCAs) are caused by repeat expansion mutations, but in some cases, these repeat expansions are interrupted. The presence of repeat interruptions can influence disease Read More…
Written by Ambika Tewari Edited by Brenda Toscano Márquez Trehalose, a natural autophagy inducer shows promise as a therapeutic candidate for MJD/SCA3 Every cell has an elaborate set of surveillance mechanisms to ensure optimal functioning. As proteins are synthesized, errors can occur leading to misfolded proteins. These abnormal proteins can Read More…
Polymerase chain reaction, or PCR, is a commonly used laboratory technique that was invented in the 1980s. The method has many applications in different fields, ranging from identifying individuals in forensic science, detecting pathogens in water supply, and genetic testing in medicine. PCR works by first obtaining a sample that Read More…
Written by Dr. Amy Smith-Dijak Edited by Logan Morrison Basic biology helps identify a new treatment for ataxia Drug design doesn’t always have to start with a blank slate. Sometimes understanding how existing drugs work can help researchers to design new ones, or even to recombine old drugs in new Read More…
What is DNA damage? As we go through life, our DNA undergoes a lot of stress, which can ultimately lead to DNA damage. The different stressors that can cause DNA damage are environmental factors such as UV light, radiation, and certain toxins. Additionally, DNA damage can be caused by metabolic Read More…
Written by Frida Niss Edited by Dr. Siddharth Nath Can neurodegeneration in SCA7 in part be due to faulty calcium homeostasis in the cerebellum? Polyglutamine diseases are caused by an increase in the length of CAG repeats within a specific gene. The mutation for spinocerebellar ataxia type 7 (SCA7) was Read More…
RNA-seq is a technology that has been used more and more in recent years to study both basic biology and disease. It’s a powerful tool has enabled scientific discovery at an unprecedented rate. But what exactly is RNA-seq? And, more importantly, what can it tell us? RNA-seq is short for Read More…
Written by Kim M. Gruver Edited by David Bushart What’s cognition got to do with ataxia? Could the cerebellum mediate both cognitive and motor symptoms in the same disease? And how can scientists use mice to find out? Spinocerebellar ataxia type 1, or SCA1, is a progressive neurodegenerative disease that Read More…
