Breaking Barriers In Rare Disease Research The Rare X Open Science

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. Copyright © 2025 The Authors. Published by Elsevier Inc.

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

Overview of Xcelerate RARE datasets, tasks, and evaluation processes Three tasks were proposed,… The Xcelerate RARE: A Rare Disease Open Science Data Challenge is bringing together researchers and data scientists in a collaborative and competitive environment to make the best use of patient-provided data to solve big... The Challenge will launch to researchers on May 31, focused on rare pediatric neurodevelopmental diseases. So between now and March 30th, patients and families affected by these conditions will be encouraged to enter health care information into the data collection program so researchers can start making discoveries! RARE-X anticipates that some of the outcomes of Xcelerate RARE might be: Thousands of researchers worldwide – clinician-researchers, basic science researchers, and data scientists – will have the opportunity to study the data.

Ultimately, the patient groups with the most available data will get the most out of the Xcelerate RARE. If you’re a Patient… it all starts with you and your de-identified health data from the Data Collection Program. The data collected in the program is openly available to researchers to advance therapeutic research. Therefore, it will be important for families battling rare pediatric neurodevelopmental diseases to complete as many surveys as possible, especially Level 2 surveys and the Health & Development Survey by March 30, 2023, and... If you’re an Academic Researcher or Data Scientist…Xcelerate RARE offers your research team access to unique rare disease patient data and offers an opportunity for teams to work on important problems facing rare disease... Winning research teams may have opportunities to obtain grant funding or to co-publish the results of their analyses at the conclusion of the challenge.

Interested researchers can sign up for updates below. Corresponding Author: Yaffa R. Rubinstein, PhD, Special Volunteer in the Office of Strategic Initiatives, National Library of Medicine, 5504 Manorfield Rd. Rockville, MD 20853, USA; yaffa.rubinstein@nih.gov Yaffa R. Rubinstein, Peter N.

Robinson, and Melissa A. Haendel authors contributed equally to this work. Received 2020 Feb 21; Revised 2020 May 30; Accepted 2020 Jun 23; Collection date 2020 Oct. This work is written by (a) US Government employee(s) and is in the public domain in the US. The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community.

Research into RDs has been limited by insufficient patient data and resources, a paucity of trained disease experts, and lack of therapeutics, leading to long delays in diagnosis and treatment. These issues can be ameliorated by following the principles and practices of sharing that are intrinsic to Open Science. Here, we describe how the RD community has adopted the core pillars of Open Science, adding new initiatives to promote care and research for RD patients and, ultimately, for all of medicine. We also present recommendations that can advance Open Science more globally. RARE-X will kick off Xcelerate RARE: A Rare Disease Open Science Data Challenge this spring. For this inaugural challenge, researchers and data scientists will work in a collaborative and competitive environment to use patient-provided data to solve research questions focused on rare pediatric neurodevelopmental diseases.

We spoke about the open science data challenge with the senior director of scientific programs for RARE-X, Karmen Trzupek, chief scientific officer of the children’s tumor foundation Salvatore La Rosa, and section head of... The three discussed open science challenges, how they work, and what RARE-X hopes to accomplish through this event. The first Xcelerate RARE challenge will launch in the spring of 2023 and will focus on rare pediatric neurodevelopmental diseases. Aliso Viejo, Calif.—January 17, 2023—RARE-X, the Global Genes collaborative platform for rare disease patients to share their data to accelerate the development of diagnoses and treatments, today announced its inaugural Xcelerate RARE: An Open... The open science data challenge is intended to generate new insights into these conditions and allow participants to test hypotheses to fuel therapeutic development by leveraging the expanding amount of patient data on the... The event will be built around three challenge questions intended to attract different researchers and scientists.

RARE-X is working with Dream Challenge through the nonprofit Sage Bionetworks to craft the challenge questions and create a dedicated analysis workspace. “RARE-X, until recently, has focused on building out its platform and working with rare disease patient advocates to collect and share data,” said Charlene Son Rigby, CEO of Global Genes. “This open science data challenge should demonstrate to researchers, drug developers, and patient advocates that people today are already using our data platform to unleash a new understanding of rare diseases to drive improvements... More than 25 rare disease communities represented by over 40 patient advocacy groups are participating in the challenge. Patients and their families affected by these conditions are actively entering their health data onto the RARE-X data platform to enable researchers to make discoveries. Rare Daily Staff The U.S.

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