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. 2025 Jul 10;6(3):100462.
doi: 10.1016/j.xhgg.2025.100462. Epub 2025 May 30.

Breaking barriers in rare disease research: The RARE-X Open Science Data Challenge as a model for collaborative innovation and community partnership

Karmen Trzupek  1 , Ravi Bhargava  2 , Cynthia Kuan  3 , Fanny Sie  2 , Vanessa Vogel-Farley  4 , Katelyn Hobbs  3 , Verena Chung  5 , Maria Diaz  5 , Charlene Son-Rigby  3 , Joseph Geraci  6 , Jacob Albrecht  7
Affiliations

Breaking barriers in rare disease research: The RARE-X Open Science Data Challenge as a model for collaborative innovation and community partnership

Karmen Trzupek et al. HGG Adv. .

Abstract

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.

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Conflict of interest statement

Declaration of interests R.B. and F.S. are employees and shareholders of Hoffmann-La Roche. J.G. is a shareholder of NetraMark.

Figures

Figure 1
Figure 1
Overview of Xcelerate RARE datasets, tasks, and evaluation processes Three tasks were proposed, each of which had a dedicated dataset crafted, as well as defined evaluation criteria.
See this image and copyright information in PMC

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