Global Genes Joins ARPA-H-Funded Consortium to Build World's Largest Data Resource for Rare Disease AI

Consortium led by UNC School of Medicine and Emory University. Global Genes will bring its rare disease patient engagement and community advocacy expertise, and its scaled RARE-X patient registry to the RAPID program.

WASHINGTON, Sept. 30, 2026 /PRNewswire/ -- Global Genes, a leading patient advocacy nonprofit serving the rare disease community, today announced its participation in a landmark consortium that has received an award of up to $35 million from the Advanced Research Projects Agency for Health (ARPA-H) Rare Disease AI/ML for Precision Integrated Diagnostics (RAPID) program. The consortium is led by University of North Carolina School of Medicine and Emory University, and will build a first-of-its-kind data resource to power AI-driven insights with the goal of earlier diagnoses, better informed medical care and accelerated treatment discovery.

More than 10,000 rare diseases affect an estimated 350 million people worldwide, including as many as one in ten Americans. For many patients, the path to a diagnosis is an ordeal: the average rare disease patient endures a diagnostic odyssey of more than six years and nearly 17 clinical encounters before receiving a diagnosis, according to the RARE Foundation. Moreover, delayed diagnosis carries avoidable medical costs ranging from$86,000 to $517,000 per patient. The RAPID program is designed to address this gap, using scaled data resources and artificial intelligence to enable earlier, more accurate diagnoses and faster access to care for patients who can no longer afford to wait.

Global Genes will bring two distinct and complementary assets to the initiative. First, Global Genes will leverage its decades of community advocacy expertise and understanding of what is required to build trust across rare disease communities, to foster patient engagement. Second, the organization will leverage its RARE-X Research Program, a patient-powered rare disease data platform with more than 10,000 participants.

RARE-X enables individuals living with rare diseases and family members to voluntarily contribute their health data to accelerate research. With data from almost 100 diseases collected in partnership with over 130 patient advocacy groups, RARE-X is one of the largest rare disease datasets, with actively engaged communities. As part of the RAPID program, existing and future RARE-X participants will have the option to consent to contribute their data to the program — ensuring that patient choice and informed consent remain at the forefront.

Robust privacy safeguards will govern all data to ensure patient privacy such as removing names before data is submitted to RAPID. The consortium will integrate diverse data sources from academic, for-profit and nonprofit partners— including health records, insurance claims, medical imaging, video technologies, and patient surveys — to build a comprehensive, scaled dataset. With this combined resource, physicians and researchers will be better equipped to reveal how rare diseases develop and progress, identify diagnostic patterns applicable beyond specialized centers, design stronger clinical trials, and accelerate drug development — ultimately bringing answers to patients and families far sooner.

"Every rare disease patient deserves an answer. The RAPID initiative gives us a genuine opportunity to change how rare disease is diagnosed and treated, said Charlene Son Rigby, CEO of Global Genes. We are grateful to ARPA-H, UNC, Emory and our consortium partners for their commitment to the rare disease community."

About Global Genes

Global Genes is a 501(c)(3) non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients, their families and disease communities globally. For nearly two decades, we've equipped rare disease patients and advocates with tools, training and support – to connect patients with needed resources, activate communities and advance research. Global Genes serves more than 400 million people around the globe, and nearly one in 10 Americans affected by rare diseases. With over 800 patient advocacy group members in our Global Advocacy Alliance, we work with patient advocates, industry partners and academia to build vital ecosystems to progress critical work in rare disease. Learn more at http://www.globalgenes.org.

About RARE-X

RARE-X is the research program of Global Genes. RARE-X provides a highly scalable approach for rare disease data collection, delivered in partnership with patient advocacy groups. RARE-X's global footprint includes more than 95 disorders from patients in over 90 countries. RARE-X's innovative, collaborative model is patient-driven with research grade data, and is designed to accelerate research and advance urgently needed treatments. Learn more at http://www.globalgenes.org/about-us/about-rare-x/.

SOURCE Global Genes