RARE-X RARE-X

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.

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.

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.

Ensuring diversity, equity, and inclusion in rare disease organizations requires focused programs that engage all stakeholders, according a nine-month project just completed by RARE-X. The project was undertaken to provide a general overview of the rare disease landscape regarding DEI issues and offer recommendations to support RARE-X’s efforts to ensure the long-term development of an inclusive rare disease data platform. We spoke to Teneasha Washington, diversity, Equity, and Inclusion lead for RARE-X, JP Sacksteder, senior director of patient advocacy relations for Genentech, and Nancy O'Donnell, director of outreach for the Usher Syndrome Coalition. The three discuss the RARE-X report, their own experiences around DEI issues, and how to best address the challenges they have encountered.

Despite a growing number of diagnostic tools, it still takes an average of six years after symptom onset for a patient with a rare disease to receive an accurate diagnosis. A recent report from the pharmaceutical company Takeda identifies three priority policy reforms designed to address the barriers patients with rare and genetic conditions face in getting a diagnosis. The report “Reducing Time to Diagnosis for People Living with Rare Diseases: A Conversation on U.S. Policy Opportunities” offers solutions that are designed to address persistent and long-standing barriers that contribute to an ongoing cycle of missed or delayed diagnosis and treatment for patients. We spoke to Takeda Senior Vice President of U.S. Rare Disease Cheryl Schwartz and RARE-X CEO Charlene Son Rigby about the report, the recommendations it makes, and what it will take to turn these ideas into action.

Before patients contribute their medical information to a research study, they must work through a consent agreement. These documents can be long, difficult to understand, and overwhelming for research participants to complete. Often consent agreements are crafted to serve the legal needs of the institutions conducting the research and fail to contemplate or allow for the future use of data beyond the immediate intended use. The consumer health technology platform Ciitizen and the nonprofit rare disease data platform provider RARE-X, have each sought to reinvent the consent process to make it patient-centric. We spoke to Deven McGraw, chief regulatory officer for Ciitizen and Vanessa Vogel Farley, R&D strategy lead for RARE-X, about the consent process, why it was necessary to reinvent it, and what a patient-centric consent process looks like.