Global Genes Awarded Prestigious $1.5 Million Technology Grant by the Chan Zuckerberg Initiative

Grant will accelerate expansion of RARE-X patient data platform

WASHINGTON, Feb. 18, 2025 /PRNewswire/ — Global Genes, the rare disease patient advocacy organization, has received a $1.5 million, two-year grant from the Chan Zuckerberg Initiative  to advance its RARE-X patient data platform. This funding will support the integration of artificial intelligence to enhance data analytics and expand access to a wider range of users including biologists and patient advocates.

The grant will build out the RARE-X analytics architecture and utilize a large language model to query data. This will allow scientists and patient advocates conducting research into rare diseases to use plain language to explore the growing body of data on the RARE-X platform to gain insights and explore key research questions.

“Global Genes has long worked to provide rare disease patient advocates with the tools and resources they need to catalyze the development of treatments,” said Charlene Son Rigby, CEO of Global Genes. “As patient advocates have moved deeper into research and drug development, we recognized that beyond the need for a platform to collect and steward their own health data, patient advocates also need to be able to analyze data to better engage and collaborate with researchers, clinicians, drug companies, and others in the rare disease ecosystem.”

The RARE-X platform currently hosts longitudinal data collection for 124 patient advocacy groups across over 80 rare disorders, to characterize these disorders and support readiness for clinical trials. With RARE-X, patient advocacy organizations can collect structured patient-reported and patient-provided data. This data is available to requesting researchers to advance their understanding of rare diseases and develop needed therapies. Data on the RARE-X platform is patient-owned and participants remain in control of how their data is used.

Patient-reported outcomes are essential building blocks for natural history studies and can provide clinical external comparator data for clinical trials.

The work developed through the Chan Zuckerberg Initiative (CZI) grant will leverage cutting-edge large language models to advance the structure and enrichment of RARE-X patient data. By expanding the use of standardized vocabularies and terminologies, Global Genes will enable scalable analytics and seamless integration across diverse data sources on the RARE-X platform. Moreover, this advanced analytic capability will accelerate the application of RARE-X patient data within the broader rare disease knowledge base by harmonizing and structuring the data to facilitate the incorporation of patient-reported outcomes into traditional data analysis.

“AI tools can help us better utilize patient experiences and outcomes in rare disease research,” said Tania Simoncelli, Vice President of Science in Society at the Chan Zuckerberg Initiative. “By integrating patient insights with other scientific knowledge, we can accelerate insights, discover patterns across different rare diseases, and catalyze the development of new therapies.” 

About Global Genes
Global Genes is a 501(c)(3) nonprofit rare disease patient advocacy organization dedicated to providing patients and advocates with a continuum of services to accelerate their path from early support and awareness through research readiness. Using a collaborative approach that involves biopharma, researchers, and advocates with data as a central core, Global Genes also enables research and data collection through the RARE-X research program. Through this effort, Global Genes is building the largest collaborative, patient-driven, open-data access initiative for rare diseases globally.

About the Chan Zuckerberg Initiative
The Chan Zuckerberg Initiative was founded in 2015 to help solve some of society’s toughest challenges — from eradicating disease and improving education to addressing the needs of our communities. Through collaboration, providing resources, and building technology, our mission is to help build a more inclusive, just, and healthy future for everyone. For more information, please visit chanzuckerberg.com.

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SOURCE RARE-X