CSNK2A1 Foundation Awarded Funding to Advance Patient-Centered Research for Ultra-Rare Neurodevelopmental Disorders

SAN FRANCISCO, CA, UNITED STATES, November 17, 2025 /EINPresswire.com/ -- The CSNK2A1 Foundation has been awarded funding through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support convening patients, caregivers, clinicians, and researchers in a first-of-its-kind effort to co-develop a stakeholder-driven, shared research agenda that centers comparative clinical effectiveness research (CER) priorities for Okur-Chung Neurodevelopmental Syndrome (OCNDS) and Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS).

The project, titled “Convening to Advance Patient-Centered CER Related to Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome,” will unite two ultra-rare, genetically linked communities, caused by pathogenic variants in the CSNK2A1 and CSNK2B genes, respectively, that share overlapping biological and clinical features but have historically worked in isolation. This award marks a transformative opportunity to align efforts and elevate the voices of those living with both conditions.

“This award represents a milestone for both the OCNDS and POBINDS communities,” said Dr. Gabrielle Rushing, Chief Scientific Officer of the CSNK2A1 Foundation and Project Lead. “By bringing together families, scientists, and clinicians across both gene communities, we are laying the groundwork for meaningful comparative clinical effectiveness research that truly reflects lived experience.”

Through a series of virtual workshops and collaborative sessions, the project will engage families, clinicians, and researchers to 1) Receive training in PCORI’s Research Fundamentals; 2) Co-create a shared rare disease lexicon; and 3) Identify key patient-prioritized outcomes to guide future comparative clinical effectiveness research (CER).

This initiative is being conducted in partnership with the CSNK2B Foundation, with scientific guidance from Dr. Cheryl Gatto of the Vanderbilt Institute for Clinical and Translational Research (VICTR) and a multidisciplinary team of clinician advisors. Together, the collaboration will produce a joint patient-centered CER research agenda and open access rare disease lexicon, publicly available through publications and foundation websites.

“The biological connection between CSNK2A1 and CSNK2B variants offers a unique opportunity to accelerate discovery through collaboration,” said Denise Scott, Executive Director of the CSNK2B Foundation. “This funding allows our communities to jointly define meaningful outcomes and advance research that can inform care and therapies for both conditions.”

By aligning two related rare disease communities around shared priorities and language, this initiative will not only strengthen community capacity for CER but also serve as a replicable model for other ultra-rare conditions seeking to elevate caregiver and patient voices in shaping CER priorities that reflect lived experience. The project aims to catalyze a new era of collaboration and discovery, improving the lives of individuals and families affected by OCNDS and POBINDS.

About the CSNK2A1 Foundation
The CSNK2A1 Foundation is a 501(c)(3) nonprofit organization dedicated to accelerating research, improving care, and empowering families affected by Okur-Chung Neurodevelopmental Syndrome (OCNDS). Through collaboration, education, and community-driven science, the Foundation advances discovery and therapeutic readiness for individuals with OCNDS. Learn more at www.csnk2a1foundation.org.

About the CSNK2B Foundation
The CSNK2B Foundation is a 501(c)(3) nonprofit organization committed to uniting science and community to improve the lives of those affected by Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS). Through strategic collaborations with researchers, clinicians, and partner foundations, the organization accelerates research, enhances clinical understanding, and elevates the voices of families worldwide. Learn more at www.csnk2b.org.

Jennifer Sills
CSNK2A1 Foundation
+1 415-501-0147
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