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

Journal: HGG advances
Published Date: May 30, 2025

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.

Authors

  • Karmen Trzupek
    Global Genes, 1012 14th Street NW, Washington, DC 20005, USA. Electronic address: karmen.trzupek@globalgenes.org.
  • Ravi Bhargava
    Department of Biomedical and Molecular Science, Queens University, Kingston, ON, Canada.
  • Cynthia Kuan
    Global Genes, 1012 14th Street NW, Washington, DC 20005, USA.
  • Fanny Sie
    Science and Research, Roche Integrated Informatics, F. Hoffmann La-Roche, Toronto, ON, Canada.
  • Vanessa Vogel-Farley
    Global Genes, 1012 14th Street NW, Washington, DC 20005, USA; Rare Epilepsy Network (REN), 12042 Cedar Creek Rd, Cedarburg, WI 53012, USA.
  • Katelyn Hobbs
    Global Genes, 1012 14th Street NW, Washington, DC 20005, USA.
  • Verena Chung
    Sage Bionetworks, Seattle, WA, USA.
  • Maria Diaz
    DreamChallenges, Sage Bionetworks, 2901 Third Ave. Suite 330, Seattle, WA 98121, USA.
  • Charlene Son-Rigby
    Global Genes, 1012 14th Street NW, Washington, DC 20005, USA.
  • Joseph Geraci
    NetraMark Corp, Toronto, ON, Canada.
  • Jacob Albrecht
    Sage Bionetworks, Seattle, WA, USA.

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