PRESS RELEASE: Undiagnosed Patient Organizations Begin Leveraging RARE-X
Rare and Undiagnosed Network and Undiagnosed Diseases Network Foundation join forces with RARE-X to enable patient data collection for undiagnosed patients and families
Rare and Undiagnosed Network and Undiagnosed Diseases Network Foundation join forces with RARE-X to enable patient data collection for undiagnosed patients and families
Washington, DC — April 29, 2022 — Rare and Undiagnosed Network (RUN) and the Undiagnosed Diseases Network Foundation (UDNF) have entered a new collaboration with the global data-sharing platform RARE-X to help people with undiagnosed conditions, accelerate diagnosis, become discoverable and more likely and more easily participate in research. RARE-X is a nonprofit organization that enables patients and disease communities to easily collect, manage, and share their health data through best-in-class technology and patient support. In June, RUN and UDNF will launch the new Undiagnosed Data Collection Program, supported by RARE-X.
“Rare and Undiagnosed Network (RUN) has always been about collaboration and sharing data.
Whether empowering rare and undiagnosed patients and their families with genomic information, or building the community through advocacy, networking and support, RUN works to make life easier for the undiagnosed patient community,” said Gina Szajnuk, co-founder and executive director of the Rare and Undiagnosed Network. “So, when RARE-X came along, it gave us hope. It was a dream for not only my family but the entire undiagnosed rare disease community.”
The Undiagnosed Diseases Network Foundation supports undiagnosed, misdiagnosed, and newly diagnosed patients. “We are building a global patient-driven learning healthcare system that hopefully becomes a health care network by the undiagnosed for the undiagnosed, for the underserved, by the underserved,” said Cristina Might, acting executive director of the Undiagnosed Diseases Network Foundation. “And we’re very fortunate to have partners like RARE-X, who have a similar vision of a scalable, more equitable collaborative future for all healthcare starting with the ultra-rare, starting with the undiagnosed.”
The Undiagnosed Disease Network Foundation, which is aligned with the Undiagnosed Disease Network, a research study funded by the National Institutes of Health involving a dozen medical research institutions, already has a significant collection of patient-level and clinical data from undiagnosed patients. The foundation will be working with UDN program participants to provide support and infrastructure for existing and new patient-reported outcome data to be collected, connected, and shared, leveraging the RARE-X platform.
Nicole Boice, founder and executive director of RARE-X, said there’s a natural opportunity for RARE-X to support undiagnosed patients. The RARE-X platform makes it easy to collect research-ready data, can be disease agnostic, is inclusive, and provides the opportunity for undiagnosed, N-of-1, and N-of-small patients to be found by researchers. In addition, RARE-X provides an opportunity for individual patients to create their own individual research-grade patient registry. This approach will provide unexpected insights, correlations, and discoveries for these patients.
“To have these undiagnosed patient registries sitting alongside other RARE-X supported disease-community Data Collection Portals allows researchers to search across the platform by disease or phenotype, catalyzing finding new correlations and identifying new patients and diseases,” said Nicole Boice. “Our approach also expands to support what many people in rare disease research have talked about when discussing cross-disease research. We have the ability to stand up research-grade, research-ready, patient-reported, real-world evidence that is consented by patients to be shared and for researchers to easily access.
These organizations are using Undiagnosed Disease Day (April 29) to announce their collaboration with RARE-X. Undiagnosed Disease Day is an annual day of events and social media activity designed to raise awareness of what people with undiagnosed conditions face. To learn more about RUN, UDNF, and Undiagnosed Disease Day, listen to the RARECAST podcast featuring Gina, Cristina, and Daniel Levine.
ABOUT RARE-XTM
RARE-X is a 501(c)(3) rare disease technology nonprofit focused on supporting the acceleration and development of life-altering treatments and future cures for patients impacted by a rare disease. By bringing together best-in-class technology, patients, researchers, and other technology vendors, RARE-X enables patient communities to gather structured, fit-for-purpose data to share broadly, benefitting from 21st-century governance, consent, and federated data-sharing technology. RARE-X is building the largest collaborative patient-driven, open-data access project for rare diseases globally. For more information, visit www.rare-x.org.
Media Contact:
Tom Hume, Marketing Communications – RARE-X
**Call To Action**
Are you an undiagnosed patient? Are you a caregiver to an undiagnosed patient (s)? Are you a member of the undiagnosed disease stakeholder community? Please send me an email to ginaszajnuk@gmail.com.
Please include the following:
-Name:
-Email:
-State/Country:
-Are you an Undiagnosed Patient?
-Are you a Caregiver to an Undiagnosed Patient(s)?
-Undiagnosed Disease Stakeholder? If so, how do you fit into the world of the unknown, the world of undiagnosed?
Contact information: Gina Szajnuk (Zanik)
Co-founder and Executive Director
Rare and Undiagnosed Network (RUN)
E: ginaszajnuk@gmail.com
C: (310) 883-4353
To Read: A mother’s unrelenting crusade to help those trapped in the wilderness of the undiagnosed – by Lee Benson To Read: “What is the hardest part of being undiagnosed?” by Gina Szajnuk
To Read: “Undiagnosed is a Diagnosis” by Ava and Gina Szajnuk
To Read: The Szajnuk Journey To Read: “Push Through” by Ava Szajnuk RARE Cast by Global Genes: “A Young Rare Disease Advocate Discusses Life with an Undiagnosed Condition”
