RARE-X is excited to announce the launch of the next group of patient organizations starting their data collection journey. Patient organizations go through onboarding with the RARE-X Community Engagement team to ensure that they are ready to help their community enroll in the data collection program.
RARE-X is the research program of Global Genes focused on supporting the acceleration and development of life-altering treatments and future cures for patients impacted by a rare disease. Enabled by best-in-class technology, patients, researchers, and other technology vendors, RARE-X gathers structured, fit-for-purpose data to share broadly, benefitting from 21st-century governance, consent, and federated data-sharing technology. Through RARE-X, Global Genes is building the largest collaborative patient-driven, open-data access project for rare diseases globally.
Next Steps:
Now that these communities have launched, they will actively be collecting data. Communities will be given de-identified data to educate their communities on the data. Researchers can also access the data that is collected through the Federated Data Access Platform.
The Chandler Project
Through advocacy, The Chandler Project brings awareness and shines a light on transformative research for the most common form of skeletal dysplasia (dwarfism), achondroplasia, and other skeletal dysplasias by offering support and resources to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options for those affected.
Growing Stronger
At Growing Stronger we support medical research, and develop resources for the care of individuals with achondroplasia. Parents and caregivers can take this information to their own healthcare team as they embark on the life-long medical journey ahead of them.
SRRM2
SRRM2 Neurodevelopmental Disorder patients, families, and communities are excited to participate in data collection to expand and improve medical research.
BCAP31
BCAP31.org supports families affected by the BCAP31 gene variant, clinicians treating patients, and researchers pursuing treatments by collaboration or funding efforts. Patients with BCAP31-related disorders commonly present with a congenital neurological phenotype characterized by severe intellectual disability (ID), dystonia, deafness, and central hypomyelination, delineating a so-called deafness, dystonia and cerebral hypomyelination syndrome (DDCH). We search to identify anyone affected by, or interested in, the BCAP31 gene variant. We share information about therapies, medications, and assistive technologies that support common symptoms of BCAP31 disorders. We collaborate and share information to move science further.
DESSH Foundation
The DESSH Foundation is a non-profit patient advocacy group supporting individuals diagnosed with DeSanto-Shinawi Syndrome (DESSH), neurodevelopmental genetic disorder. There are currently less than 200 identified patients worldwide. The foundation was established to raise awareness, provide support to families, and pursue research opportunities to find treatments for DESSH.
Cure AP-4
Cure AP-4 was originally founded as Cure SPG47, but the mission has since expanded to include all four AP-4 related disorders due to shared natural history, goals and patient/family needs. We refuse to accept the bleak prognosis which our children face. We have decided to fight. The purpose of this organization is to study and seek a cure for all AP-4 HSP disorders. We aim to improve the quality of life for children impacted by AP-4 HSP by accelerating the research for cures and treatments and providing support for patient therapies critical to their well-being and rehabilitation.
TBCK Foundation:
The TBCK Foundation is dedicated to serving families impacted by TBCK Syndrome, a rare genetic disease. We serve our community through accelerating patient driven research and by providing a dynamic system of support – connecting science to the patient voice.”
Community Page links:
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