Breaking barriers in rare disease research: The RARE-X Open Science Data Challenge as a model for collaborative innovation and community partnership
Trzupek et al. describe a rare disease Open Science Data Challenge, using data collected systematically on RARE-X across 27 neurodevelopmental disorders. Clinical diagnoses, symptoms, genetic data, and PROs were included. Researchers and statisticians generated solutions that identified previously underappreciated symptoms and used machine learning to test predictive models for diagnosis.
Authors
- Jacob Albrecht (ORCID: https://orcid.org/0000-0003-1813-7649)
- Kim Hobbs (ORCID: https://orcid.org/0000-0003-0442-8787)
- Fanny Sie (ORCID: https://orcid.org/0009-0008-4944-2447)
- Vanessa Vogel‐Farley (ORCID: https://orcid.org/0000-0002-1010-5944)
- Joseph Geraci (ORCID: https://orcid.org/0000-0003-0967-2164)
- C.H. Kuan (ORCID: https://orcid.org/0000-0003-0653-5092)
- Verena Chung (ORCID: https://orcid.org/0000-0002-5622-7998)
- María Díaz (ORCID: https://orcid.org/0000-0003-2670-8149)
- Ravi Bhargava (ORCID: https://orcid.org/0000-0002-5697-0175)
- Karmen M Trzupek (ORCID: https://orcid.org/0000-0001-9200-9501)
- Charlene Son-Rigby
Institutions
- Center for Global Development (US)
- Sage Bionetworks (US)
- Cedar Crest College (US)
- Roche (Canada) (CA)
- DuPont (Canada) (CA)
- Bristol-Myers Squibb (Sweden) (SE)
- Bristol-Myers Squibb (Belgium) (BE)
Publication Details
- Journal
- Human Genetics and Genomics Advances
- Published
- 2025-05-30
- DOI
- https://doi.org/10.1016/j.xhgg.2025.100462
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Roche
- F. Hoffmann-La Roche
- Horizon Therapeutics