About PURA Syndrome

Although only 640 people around the world have PURA Syndrome, it’s likely that many more people have not yet been diagnosed. Discovered only recently, in 2014, PURA Syndrome is one of several rare neurodevelopmental disorders traced to DNA misspellings (or deletions) in the PURA gene.

The PURA gene directs the production of a protein named Pur-alpha, which is present in all human tissues where it helps copy DNA and make other proteins. Because Pur-alpha seems to be particularly important for helping the brain develop properly, defects in the PURA gene show up in learning disabilities, developmental delays, and seizures, but also various other symptoms such problems with breathing, low muscle tone (known as hypotonia), and orthopedic issues. Scientists do not fully understand everything the Pur-alpha protein does, but it is also involved in other brain disorders including fragile X-associated tremor ataxia syndrome and amyotrophic lateral sclerosis (ALS)/fronto-temporal dementia (FTD) spectrum disorder.

To learn more about PURA Syndrome, researchers are using animal models to study it, including mice that have been genetically modified to have low or no levels of Pur-alpha. These mice have problems with memory, gait, and muscle tone – similar to symptoms in people – and can serve as a test bed for potential drugs. For all diseases, though, research with human samples is critical. A patient registry and biobank, which contains samples of DNA, cells, and tissues from people who have the disorder are valuable resources that will drive the search for treatments and cures – Jack’s Tomorrow aims to expand funding to accelerate this vital work.