We are a dedicated team of committed forward thinkers transforming rare disease in support of patients. PATIENTS' DATA POWERING PROGRESS
Podcast Overview
We are a dedicated team of committed forward thinkers transforming rare disease in support of patients. PATIENTS' DATA POWERING PROGRESS
Language
🇺🇲
Publishing Since
3/25/2021
1 verified contact email on file for RARE-X
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Recent Episodes
April 3, 2024
Changing the Understanding of Rare Diseases with Data
Last year, Global Genes launched the inaugural Xcelerate RARE Open Science Data Challenge. The event brought together 24 teams of clinical researchers, data scientists, and biostatisticians from around the world. The teams competed to make the best use of patient-provided data to address significant challenges to research and medical management for patients with rare neurological diseases. A total of 27 different ultra-rare neurodevelopmental disease communities collaborated in the challenge. The results showed the value of open science environments where stakeholders with diverse backgrounds and perspectives come together to answer important healthcare questions. We spoke to Karmen Trzupek, senior director of scientific programs for Global Genes, about Xcelerate RARE, how the effort is helping to change the understanding of the neurodevelopmental diseases involved in the challenge, and why it more broadly validates RARE-X’s approach to collaborating with patient communities to collect high-quality, research grade patient data.
December 15, 2022
An Open Science Data Challenge to Address Rare Neurodevelopment Diseases
This spring, RARE-X will kick off Xcelerate RARE: A Rare Disease Open Science Data Challenge. For this inaugural challenge, researchers and data scientists will work in collaborative and competitive environment to use patient-provided data to solve research questions focused on rare pediatric neurodevelopmental diseases. More than 44 rare disease communities represented by more than 70 patient advocacy groups are participating in the challenge and patients and their families affected by these conditions are actively loading their health data to the RARE-X data platform to enable researchers to make discoveries. We spoke about the open science data challenge with 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 medical informatics for Genentech Andrew Nguyen. The three discussed open science challenges, how they work, and what RARE-X hopes to accomplish through this event.
June 7, 2022
The Power of Being Counted
For more than a decade, governments, nonprofits, and industry organizations involved in rare disease have stated as a matter of fact that there are 7,000 rare conditions or estimated the number to be between 5,000 to 8,000. The sources of these estimates are challenging to identify, given the circular nature of citations among groups repeating these figures. What’s more, these estimates have remained static even though nearly 300 new rare genetic diseases are added to principal knowledge bases each year. In an effort to develop a true count of rare conditions, RARE-X recently completed a research project that found the actual number is approaching 11,000. We spoke to research lead and Alexion Senior Director of Data Science Sebastien Lefebrve, Vice President of Patient Experience for Alexion Wendy Erler, and RARE-X CEO Charlene Son Rigby, about the new paper “The Power of Being Counted, the significance of its findings, and what the implications are for patient communities. An editor’s note: since recording this podcast, the authors of the RARE-X study have updated their work and revised the total number of rare diseases they identified to 10,867.
8 total episodes available
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- What is RARE-X?
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