Publication Announcement — RARE-X: Advancing Rare Disease Research Through Patient-Driven Data

Global Genes is excited to announce “RARE-X: A patient-driven approach for collecting symptom and patient-reported outcome data in rare diseases”  has been published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG). This publication marks an important step forward for RARE-X and for the broader rare disease research community. 

RARE-X is the research program of Global Genes. RARE-X provides a highly scalable approach for rare disease data collection, delivered in partnership with patient advocacy groups. RARE-X’s global footprint includes more than 85 disorders from patients in over 90 countries.

“Our goal with RARE-X has always been to build a robust, scalable research platform with  patient-reported outcome data at the core to accelerate scientific advancements in rare disease.”
— Charlene Son Rigby, CEO, Global Genes

Why This Paper Matters

Rare disease research continues to face challenges such as small sample sizes, fragmented data, limited longitudinal follow-up, and difficulty comparing findings across conditions. Patient-reported outcome (PRO) data can help address many of these gaps when collected, governed, and analyzed using research-grade approaches and a common base data model across diseases, and serve as an important complementary resource to other data sources available to the community.

In this paper, we present the structure and function of the RARE-X platform, including its data collection methodology, community engagement process, and infrastructure for secure, patient-driven data sharing. We also discuss its potential to support a range of research efforts, such as characterizing phenotypes within diseases, conducting cross-disease analyses, and leveraging longitudinal data to inform rare disease studies.

Gratitude to the Community

This work would not be possible without the dedication of patients, families, advocacy groups, and research partners as well as other stakeholders who have generously shared their time, insights, and data. Their continued participation and feedback remain central to how RARE-X evolves.

“This milestone reflects the collective efforts of our team and the rare disease community that helped shape and make this work possible. We are especially proud that the patient communities who have contributed throughout this journey have a publication they can reference to support their dissemination, advocacy, and research engagement efforts toward our shared goals.”
— Zohreh Talebizadeh, PhD, Senior Director of RARE-X Research Program

We invite you to read the paper and learn more about how RARE-X is supporting research across rare diseases.

Link: https://pubmed.ncbi.nlm.nih.gov/41239885/

https://www.sciencedirect.com/science/article/pii/S1098360025002813