The Chan Zuckerberg Initiative (CZI), created by Dr. Priscilla Chan and Mark Zuckerberg in 2015, announced $13.5 million in funding to 30 patient-led organizations that are working to find treatments and cures for rare diseases. These grants are part of CZI’s Rare As One Project, aimed at supporting and lifting up the work that patient communities are doing to accelerate research and drive progress in the fight against rare diseases.
Rare diseases are anything but rare: as many as 7,000 rare diseases affect 400 million people worldwide. The vast majority of these diseases are not well known or understood, and fewer than five percent have any FDA-approved therapy. The knowledge and learnings of patients suffering from these diseases are key to driving breakthroughs in research and treatment, but a lack of funding and infrastructure to support such patient-led research is holding that progress back.
The family-led Snyder-Robinson Syndrome Foundation is one of 30 grantees selected to participate in the Rare As One Network. The Foundation will receive $450,000 over two years, along with resources including training, community mentorship, and capacity-building services to assist them in establishing a network of researchers and clinicians, convening their community, and developing a research agenda. The hope is that these organizations will share feedback with and learn from one another, and identify how to best address the most pressing needs across a spectrum of rare diseases.
The Greenwood Genetic Center (GGC) has a close relationship with the Snyder-Robinson Foundation and a long-standing interest in this condition that causes hypotonia (weak muscle tone), developmental delay, intellectual disability, seizures, and orthopedic problems.
The gene causing Snyder-Robinson syndrome was discovered in 2003 by GGC’s then-Director of Research, Charles Schwartz, PhD and his team. He convened a workshop at GGC in 2017 including clinicians, scientists, pharmaceutical representatives and families to launch a collaborative effort to develop a treatment for Snyder-Robinson syndrome which initiated several promising research partnerships. Schwartz retired from GGC in 2018 but continues his work with Snyder-Robinson syndrome as Chair of the Foundation’s Medical and Scientific Advisory Board.
"I am so proud that the Snyder-Robinson Foundation has been selected for this transformational award,” said Schwartz, who was recognized by the Foundation in 2015 for his commitment to improving the lives of patients. “They have done extraordinary things to mobilize families from around the world who are impacted by this rare condition, and with this grant and their perseverance, I have no doubt that we will find an effective treatment and eventually a cure.”
GGC’s current work on this condition includes a project funded by the University of Pennsylvania’s Million Dollar Bike Ride program to study biomarkers for an early diagnosis, as well as an NIH-funded project with the University of Miami investigating mechanisms of neurological disease in patients with Snyder-Robinson syndrome.
Michael Raymond helped start the Snyder-Robinson Syndrome Foundation after his son was diagnosed, and at the time, only two other US families had been identified with the condition.
“The Snyder-Robinson Foundation hopes that its participation in the Rare As One Network will help advance research to improve the lives of SRS patients and those with related disorders,” said Raymond. “The organization aims to build on the momentum gained over the last few years so that it may deliver safe and effective treatments to all patients who need them.”
“No one is more committed to finding cures for rare diseases than the patients and families of those affected by these disorders,” said Priscilla Chan, Co-Founder & Co-CEO of CZI. “We are proud to support patient-led organizations as they pursue diagnoses, information, and treatment options in partnership with researchers and clinicians.”