Today is International Ataxia Awareness Day (IAAD), and we’re proud to be participating in this worthy cause. Ataxia is a group of rare, degenerative neurological diseases with a number of different presentations; many involve muscle tremors, loss of motor skills, and difficulty walking. As many as 150,000 people in the United States have some form of ataxia.
Because there are so many different types of ataxia, one of the most important early steps for those affected is getting an accurate diagnosis. There are several hereditary ataxias, and genetic testing is increasingly useful for pinpointing the exact type affecting a patient.
An ongoing challenge for accurate genetic testing, however, is that some ataxias are associated with repeat expansions — making these genetic regions difficult to characterize with short-read or even Sanger sequencing technologies. Recently, scientists have made significant leaps forward by applying SMRT Sequencing. Work from Tetsuo Ashizawa from Houston Methodist Research Institute and his colleagues Birgitt Schuele and Karen McFarland from the Parkinson’s Institute and University of Florida has been particularly impressive. In 2015, they published results from sequencing the complete repeat expansion ranging from ~5.3 kb-7.0 kb in several patients, finding novel interruption motifs that may help explain a specific phenotype. Just this month, they reported using a Cas9 method to snip out the region of interest and long-read PacBio sequencing to characterize it, again speculating that the presence or absence of repeat interruptions has an impact on pathology. “Single molecule sequencing paired with SMRT/Cas9 capture approach allowed us to characterize the genetic composition of the complete repeat expansion which revealed a novel phenotype-genotype correlation for Parkinson’s disease and ATXN10,” Ashizawa and his collaborators wrote.
We congratulate Ashizawa and all the other scientists working so hard to improve outcomes for patients with ataxia. Like any rare disease community, these patients lack resources available to more common disease groups, such as robust patient/caregiver organizations and extensive research funding. On this special day, we ask that you help raise awareness for the people who live with ataxia, and the scientists focused on finding new treatments.
To participate in #IAAD17 and learn more about the symptoms, treatment, diagnosis and different types of ataxia, please visit the excellent website of the National Ataxia Foundation. To hear more about Ashizawa and Schuele’s work, check out this video:
September 25, 2017 | General