About PURA Syndrome
Although there are approximately 840 patients with PURA syndrome confirmed globally, across 67 countries, it’s likely that many more people have not yet been diagnosed. Discovered 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 lead to significant developmental delays, seizures, apnea, low muscle tone (known as hypotonia), and orthopedic issues such as hip dysplasia.
To learn more about PURA Syndrome, Jack's Tomorrow has been working with researchers at The Jackson Laboratory (JAX) to develop a mouse model to study the disease. Learn more about the science we are funding.
Our Funding Policy
Jack's Tomorrow recognizes that grant award recipients may have overhead costs that are not directly attributable to the proposed project but are necessary to carry out the proposed project. Jack's Tomorrow will not fund indirect costs, and therefore can only make grants to researchers and institutions that can absorb the indirect costs of the project.
YOUR SUPPORT MATTERS
Your support directly helps us fund vital PURA Syndrome research.
Consider a donation today and join the Jack’s Tomorrow team and help us accelerate a path to a cure for PURA Syndrome.