Press Releases

RARE-X to Launch an Open Science Data Challenge to Address Rare Neurodevelopmental Diseases

January 17, 2023

The first Xcelerate RARE challenge will launch in the spring of 2023 and will focus on rare pediatric neurodevelopmental diseases.

Aliso Viejo, Calif.—January 17, 2023—RARE-X, the Global Genes collaborative platform for rare disease patients to share their data to accelerate the development of diagnoses and treatments, today announced its inaugural Xcelerate RARE: An Open Science Data Challenge to bring together researchers and data scientists to use patient-provided data to address unanswered research questions about rare diseases.

The open science data challenge is intended to generate new insights into these conditions and allow participants to test hypotheses to fuel therapeutic development by leveraging the expanding amount of patient data on the RARE-X platform and federated data sets. The event will be built around three challenge questions intended to attract different researchers and scientists. RARE-X is working with Dream Challenge through the nonprofit Sage Bionetworks to craft the challenge questions and create a dedicated analysis workspace.

“RARE-X, until recently, has focused on building out its platform and working with rare disease patient advocates to collect and share data,” said Charlene Son Rigby, CEO of Global Genes. “This open science data challenge should demonstrate to researchers, drug developers, and patient advocates that people today are already using our data platform to unleash a new understanding of rare diseases to drive improvements in the diagnosis and treatments of these conditions.”

More than 25 rare disease communities represented by over 40 patient advocacy groups are participating in the challenge. Patients and their families affected by these conditions are actively entering their health data onto the RARE-X data platform to enable researchers to make discoveries.

The challenge questions will include one aimed at identifying previously unrecognized symptoms,  a second focused on creating machine learning algorithms to predict disease diagnoses based on the diagnostic journey that is documented by these families contributing and sharing data, and a third one aimed at using data to further a therapeutic hypothesis. The RTW Charitable Foundation, one of the Xcelerate RARE sponsors, has set aside grant funding for up to three submissions that provide a compelling therapeutic hypothesis to test in a lab.

“The Open Science Data Challenge is like a long-form hackathon,” said Karmen Trzupek, Senior Director of Scientific Programs for Global Genes. “With the Open Science Data Challenge, we’re bringing together people who wouldn’t normally see, use, and work on this data into the rare disease space to encourage deep thought, collaboration, and communication to vet research ideas and develop them, not over a weekend, but over two months. The longer timeframe enables more people to participate.”

There are many ways for people to get involved in Xcelerate RARE. Families battling rare pediatric neurodevelopmental diseases can complete surveys on the RARE-X platform, including patient-reported symptoms and validated patient-reported outcome measures (PROMs). Participants who have genetic test reports should upload them to the RARE-X platform for expert curation by the RARE-X team.

Academic researchers, data scientists, and their research teams are encouraged to join the open science data challenge to work on important problems facing rare disease families and compete for grants and prizes. It’s also an opportunity for researchers working for biopharmaceutical companies to get access to rare disease patient data in a pre-competitive, open environment. This data can help their team better understand the underlying biological mechanisms of neurodevelopmental diseases to develop insights into potential therapeutic approaches and advance their research pipeline.

RARE-X is seeking judges with clinical expertise in neurodevelopmental diseases, rare disease research, and machine learning models of predictive diagnosis. The organization also welcomes sponsors who can provide prizes or external data for harmonization efforts. In addition to RTW Charitable Foundation, RARE-X will also be partnering with Roche, the Alliance for Artificial Intelligence in Healthcare, and NetraMark, plus receiving expert advice from the U.S. Food and Drug Administration to deliver Xcelerate RARE.

“Ultimately, our goal is to advance rare disease understanding and meaningful therapeutic research for rare diseases,” said RARE-X’s Trzupek. “For this inaugural event, we have reasonable expectations. We don’t necessarily expect the patient-reported data we’ve collected in just over a year to generate a blockbuster therapeutic idea overnight, but we firmly believe that patient-reported data is powerful and can be used to fuel and to test therapeutic hypotheses.”

For more information on Xcelerate RARE visit the RARE-X website.

Or listen to the RARE-Xtra Podcast on An Open Science Data Challenge to Address Rare Neurodevelopment Diseases.

About Global Genes

Global Genes is a 501(c)(3) nonprofit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally. In pursuit of that mission, Global Genes connects, empowers, and inspires the rare disease community to stand up, stand out, and become more effective on their own behalf ⁠— helping to spur innovation, meet essential needs, build capacity and knowledge, and drive progress within and across rare diseases. Global Genes serves more than 400 million people around the globe, and nearly one in 10 Americans affected by rare diseases. If you or someone you love has a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE or visit the Resource Hub.

About RARE-X

RARE-X is a 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. For more information, visit

Media Contact:

Tom Hume
Marketing Communications
Global Genes/RARE-X
[email protected]