Interview with Nicole Boice, Founder of the RARE-X Disease Data Platform
In an effort to revolutionize the way rare diseases are researched and treated, the nonprofit organisation RARE-X has announced the launch of its federated data analysis platform. The initiative, which aims to centralize patient data for rare diseases, was born out of the need for usable patient data in rare disease research, as recognised by Nicole Boice during her time at Global Genes.
Boice, who has a background in executive sales and marketing for pharmaceutical, media, and technology companies, became involved in the rare disease space after meeting a friend's baby with an undiagnosed rare disease. Recognising the importance of patient data in driving research and development, she launched Global Genes to improve awareness, education, and quality of life for rare disease patients.
The new platform, which was spun out of the work done by Boice at Global Genes, will provide a centralized data hub for rare disease patient data. It will interconnect disparate data within the RARE-X environment and federate data from outside of it, including biopharma, academic research institutes, and patient registries. This will help identify new patients and new diseases, accelerating infrastructure and early work, especially in small, ultra-rare diseases.
The platform will also help de-burden patients, create less scarcity, and alleviate some of the scarcity of patients in the biopharmaceutical space. It will provide a way for patients to own their data and control how they share it, reducing the burden on patients of filling out surveys and doing biospecimens multiple times.
RARE-X collaborates with partner organisations including the NIH, Global Genes, and various academic institutions to provide the data hub for researching existing diseases, discovering new conditions, and finding treatments. The platform will include education and resources to support patient participation in research, helping to attract researchers and develop disease characterization models, regardless of the size of the disease or the disease area.
The federated data analysis platform will use technology to pull data into a cloud and allow researchers to combine it all in a workspace for analysis, becoming the backbone of a research hub. RARE-X became a 501(c)(3) in late 2019 and launched its federated data analysis platform in partnership with the Broad Institute of MIT and Harvard in early 2021.
In a forthcoming report, RARE-X will showcase the need to help support patients, as there are over 9,500 rare diseases and more coming every year. The organisation's mission is to create a new approach to accelerate a lot of the infrastructure and early work that is critical, especially in the small, ultra-rare diseases, and to open up data responsibly, allowing it to be accessed and analyzed together from various locations.
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