Prader-Willi syndrome (PWS) is a genetic disorder that occurs in approximately one out of every 15,000 births. PWS affects males and females with equal frequency and affects all races and ethnicities. PWS is recognized as the most common genetic cause of life-threatening childhood obesity.
The Foundation for Prader-Willi Research was established in 2003 by a small group of parents who saw the need to foster research that would help their children with Prader-Willi syndrome lead more healthy and fulfilling lives. The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome through the advancement of research and therapeutic development. High-quality research will lead to more effective treatments and an eventual cure for this disorder.
Why is donating brain tissue important to research and therapeutic development in PWS?
Our understanding of Prader-Willi syndrome (PWS) is advancing, but not as quickly as we, scientists and families, would want. One challenge is that the direct study of disorders that affect the brain, like PWS, is more difficult than disorders affecting other organs. While the development of models that mimic some aspects of PWS including cell and animal models have greatly advanced our understanding of the syndrome and have been critical for screening potential therapeutics before they are being tested in patients, there is no substitute for studying human brain tissue to unravel the complexities of the brain neurocircuitry defects in PWS.
Brain donation is critically important. Relative to donations of other organs for transplantation and/or research, brain donation is severely lagging, especially from children. “If we want better interventions, we need to look for neuropathology and find patterns of cell pathology.” says Dr. Patrick Hof, Icahn School of Medicine. “We need to build a significant research resource of donated brain tissue.”
Brain tissue recovery is coordinated nationally by Autism BrainNet. A 24-hour hotline number is available for families for further information on the donation process or for brain donation. The team at Autism BrainNet will also follow up after the donation occurs to schedule a visit with the donor’s family. The purpose of this visit is to collect essential documentation about the donor and to learn more about the donor’s background. Donation can still be arranged even if families have not pre-registered. Autism BrainNet will assume all costs related to tissue recovery.
FPWR’s partnership with Autism BrainNet will enable the highest quality brain tissue collection, storage and distribution to the PWS research community, be a valuable resource for researchers interested in PWS and in other-related disorders while ensuring the smoothest process for families in difficult times.