SAN DIEGO, Sept. 20, 2023  — The rare patient advocacy organization Global Genes today announced the winners of its inaugural Xcelerate RARE Challenge Open Science Data Challenge at the RARE Advocacy Summit in San Diego.

The Xcelerate RARE Challenge, which was focused on rare pediatric neurodevelopmental diseases, brought together academic and industry researchers and data scientists to use patient-reported data to address unanswered research questions about rare diseases. A total of 132 scientists, many of whom don’t normally work on rare diseases, participated in 24 teams that created 33 total submissions.

Patient-reported data is powerful and can be used to fuel and test important hypotheses. Sharing of robust patient-reported data, combined with molecular and federated electronic health record data, is advancing rare disease understanding and research. – Charlene Son Rigby, CEO of Global Genes.

“For many rare diseases, where very little data is published and available, it can be difficult for families, doctors, and researchers to find reliable information about the symptoms and progression of that condition,” said Fanny Sie, Head of AI and Emerging Technology Collaborations at Roche. “As a result of ecosystem partnerships between patient advocacy groups, industry, academia, startups and individual contributors within the Xcelerate Rare Open Science Challenge, we now have algorithms we can use to analyze patient-reported data to define the phenotypic spectrum of each of these diseases and compare it to published data that are accessible to all.”

The Challenge, which ran from May 31 through August 16, was designed to generate new insights into these conditions and allow participants to test hypotheses for fueling therapeutic development by leveraging the growing amount of patient data on Global Genes’ RARE-X platform. Participants made use of de-identified data on the RARE-X platform, as well as electronic health record data curated by Ciitizen, and external registry data provided by the Coordination of Rare Diseases at Sanford (CoRDS).

Global Genes invited participating researchers to address three challenge questions. The first question focused on expanding known phenotypes with previously unrecognized symptoms. Global Genes named three winners for the first challenge question, including:

• Best approach, combining RARE-X & external data: 3Billion Team, led by Won Chan Jeong, Bioinformatics Engineer and Kyoungyeul Lee, Chief Scientific Officer; at 3Billion, Seoul, South Korea

The second challenge question involved creating machine learning algorithms to predict disease diagnoses based on the diagnostic journey documented by families providing data. Global Genes named the following team as the winner of this challenge:

• Best computational approach for predicting a diagnosis based on patient-reported data: Ambit Inc.’s Data and Analytics Team led by Birnur Ozbas-Erdem, Ph.D., Vice President and Head of Analytics and Data Products at Ambit Inc.

The third challenge question focused on using data to validate or refute a potential therapeutic approach for one or more rare diseases. Global Genes announced two winners of this challenge:

• Best use of the RARE-X data set: Mefford Lab at St. Jude Children’s Research Hospital, led by Heather C. Mefford, M.D., Ph.D., Principal Investigator at St. Jude Children’s Research Hospital

“While the first Xcelerate Rare Open Science Data Challenge is now closed, this is just a beginning,” said Karmen Trzupek, Senior Director of Scientific Programs at Global Genes. “We expect to continue to collaborate with these groups to leverage their computational approaches for analyzing patent data to accelerate the understanding of rare diseases and drive development of new therapies to treat them.”

Roche served as founding partner and co-organizer of the Xcelerate Rare Challenge. Sponsors included Datavant, Horizon, and RTW Charitable Foundation. Xcelerate Rare data partners included Ciitizen, Sanford Health, and NetraMark. Global Genes also worked with Dream Challenge through the nonprofit Sage Bionetworks to craft the challenge questions and create a dedicated workspace.

“We believe that patient-reported data is powerful and can be used to fuel and test important hypotheses,” said Charlene Son Rigby, CEO of Global Genes. “With the collaboration of research groups around the world, we have shown that the open sharing of robust patient-reported data, combined with molecular and federated electronic health record data, can advance rare disease understanding and research.”

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.

Media Contact

Lauren Alford, Global Genes, 949-248-7273, lauren.alford@globalgenes.org, www.globalgenes.org 

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