Science and Innovation

Defined in 2014, PURA Syndrome is a new disease and there is a lot we don’t know. Yet, amazing science advances and powerful technologies are at the ready today to accelerate progress toward treatments and cures. Jack’s Tomorrow will support research to build on existing resources graciously donated by the hundreds of people around the world who, like Jack, have been diagnosed with PURA Syndrome. Many more children remain undiagnosed, and research advances will help everyone.

One of the most exciting avenues for writing new chapters for Jack and so many others are disease-specific research tools. Derived from patient samples, these tools are exactly what is needed to advance understanding about PURA Syndrome. You can help by supporting development of:

• Create induced pluripotent stem cells (iPSCs) – these magical cells are like mini-patients in that they are reprogrammed from skin cells of people with a particular disease. First developed in 2006, iPSCs provide scientists with an abundant, immune-matched supply of cells to study and test potential treatments.

• Repurpose drugs – developing a brand-new drug can take a long time and a lot of money. But another strategy is to look at already approved drugs and find new uses for them. One great success story is how patients, families, and researchers teamed up to find a treatment for the rare disease progeria.

• Develop new animal models – in addition to the currently useful animal models of PURA Syndrome (mice, zebrafish, and frogs), animals closer to humans (e.g., primates like marmosets with brains more similar to ours), may provide more insights into brain-related processes.

Tomorrow is today – now is the time to jolt this research into action to make PURA Syndrome a reversible disease that can be treated, and perhaps one day cured, through gene therapy to fix the faulty PURA gene.