The Xcelerate RARE: A Rare Disease Open Science Data Challenge is bringing together researchers and data scientists in a collaborative and competitive environment to make the best use of patient-provided data to solve big unknowns in healthcare.
The Open Science Data Challenge will launch to researchers May 31, and will focus on rare pediatric neurodevelopmental diseases.
We anticipate some of the outcomes of Xcelerate RARE might be:
- Shortening the diagnostic odyssey with predicted diagnosis
- Identifying previously unrecognized symptoms associated with some of these rare diseases
- Generating useful insights for advancing therapeutic research
Thousands of researchers worldwide – clinician-researchers, basic science researchers, and data scientists – will have the opportunity to study the data.
How To Participate
Patients & Caregivers
It all starts with you and your de-identified health data from the Data Collection Program. The data collected in the program is openly available to researchers to advance therapeutic research. It is important for families battling rare pediatric neurodevelopmental diseases to complete as many surveys as possible, especially Level 2 and the Health & Development Survey, by March 30.
Academic Researchers & Data Scientists
Xcelerate RARE offers your research team access to rare disease patient data and an opportunity for teams to work on important problems facing rare disease families in a fun, structured environment. Winning teams may have opportunities to obtain grant funding or co-publish the results of their analyses at the conclusion of the challenge.
Researchers in Biotech / Pharma Companies
Xcelerate RARE offers you access to rare disease patient data in a pre-competitive, open environment. This data can help your team to better understand disease biological mechanisms to develop hypotheses to advance your therapeutic research pipeline. Interested researchers & teams can sign up for updates below.
The Data
The RARE-X dataset includes clinical diagnoses, detailed symptoms, curated genetic data, and patient-reported clinical outcome assessment measures (COAs) across 27 rare pediatric neurologic disorders.
Data is patient-reported or provided, and patient-owned to provide open access to the research community.
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Patient Advocacy Groups
500+
Causative Rare Disease Variants (>50 Novel)
27
Ultra-Rare Neurological Diseases
1700+
Patients from 64 Countries
Xcelerate RARE Challenge Tasks
Participants will have the opportunity to address three tasks as part of the Open Science Data Challenge
Task 1:
Identify underrecognized symptoms/ Expand definition of rare disease
- Dataset: De-identified US data on RARE-X platform; not downloadable
- Number of patients: 945
- # of Conditions covered: 27
Task 2:
Predict diagnosis based on symptoms, age of onset, disease severity, etc.
- Dataset: Synthetic data that mimics the format of training and validation data will be provided; downloadable
- Number of patients: 1504
- # of Conditions covered: 16
- In addition to the RARE-X data, this task will include:
- EHR data from 2 disease communities, curated by Ciitizen
- External registry data from 2 disease communities, provided by CoRDS
Task 3:
Further or refute a therapeutic hypothesis in one or more rare disease
- Dataset: All RARE-X data accessed through our Data Analysis Platform on Terra, which includes de-identified US and ex-US data; not downloadable.
- Number of patients: 1701
- # of Conditions covered: 27
Incentives
Collaboration with Industry
Winning teams will have the opportunity to present their proposed solutions in front of Global Genes’ Research Advisory Council (leading pharma partners) to explore potential collaboration with industry.
Awards Ceremony & Recognition
Winning teams will be publicly recognized at the RARE Advocacy Summit, one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies.
Grant Opportunities
For Task #3, related to therapeutic hypotheses, the RTW Charitable Foundation has agreed to “fast-track” the top 3 winning hypotheses to grant review. Each of the 3 winning teams has the potential to be awarded a grant of up to $50,000 each.
Are you a researcher interested in participating in the Xcelerate RARE Open Science Data Challenge?
Thank You To Our Sponsors & Partners
Founding Partner and Co-Organizer
Sponsors
Partners
Planning Committee and Advisors
- Fanny Sie, MS – Head of Artificial Intelligence & Digital Health, Roche
- Mariam Ahmed, PMP, LSPO, CSM – Informatics Business Partner, Roche
- Ravi Bhargava, MD – AIDH Partner / Medical Director One Roche Global, Roche
- Joshua Hoang, MS – AI & Digital Healthcare Partner- Data Network Enablement, Roche
- Kristoph Klein-Panneton, MS – Integrated Evidence Generation Lead, Roche
- Ramanandan Prabhakaran- Roche
- Andrew Nguyen, PhD – Data Working Group Co-Chair, Section Head, Medical Informatics, AAIH, Roche
- Jennifer Tjernagel, MS – Senior Project Manager, Simons Foundation
- Joseph Geraci, PhD – Chief Scientific Officer, Netramark
- Anne O’Donnell-Luria, MD, PhD
- Glenn Morrison, PhD
- Harsha K. Rajasimha, PhD
- Marinka Zitnik, PhD
- Ran Naot
- Elaine Johanson