RARE Daily

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

January 18, 2023

RARE-X, the Global Genes collaborative platform for rare disease patients to share their data to accelerate the development of diagnoses and treatments, 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 more than 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. 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.

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.”

Author: Rare Daily Staff

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