Radically Changing Data Collection and Accelerating Advances in Rare Disease

June 16, 2020

RARE-X unveils plan to radically change data collection and sharing to accelerate advances for patients in rare disease

by Danny Levine

A group of patient organizations, academic researchers, and other rare disease stakeholders today unveiled RARE-X, which is expected to become the largest data sharing initiative focused on rare disease.

Removing barriers to the ‘right data at the right time’ in rare disease is essential for progress. Patient organizations, academic researchers, and other rare disease stakeholders have come together to bring forward a collaborative that will enable the gathering, structuring and sharing of critical patient data at scale in support of patients impacted by rare disease.

RARE-X is a grant-supported nonprofit that was created to help support acceleration of disease understanding of the causes, manifestations, and progression of rare diseases, and to develop needed treatments for the 9,500 rare diseases that have been identified today.

“Patient data is the fundamental element needed to drive innovation in rare disease, but data does little to advance progress if it’s not accessible to researchers, inadequately formatted, or incomplete,” said Nicole Boice, co-founder of RARE-X. “RARE-X is working to remove one of the greatest obstacles to progress in the area of rare diseases by eliminating barriers for patients to gather and responsibly share research-ready data with scientists, drug developers, and clinicians.”

The RARE-X collaborative data platform provides a means for patient organizations to share patient registries, natural history studies, genomic information, electronic health records, and other data with researchers, clinicians, and drug developers broadly and with the appropriate governance. This technology platform and novel support service layer will be provided free of charge to patient organizations to ensure that they can gather the right data, and share it without many of the burdens that impact patients desire to participate. In addition, in order to support the breadth of stakeholders and data in rare disease, this platform is being built to scale, with systematized processes that will transform patient data collection for the future.

Patient communities that use RARE-X own their data and have full control over who has access to it and how it is used, a reflection of the organization’s core belief that when patients are empowered as data stewards, it benefits everyone in the rare disease ecosystem.

“Data collection for patients and patient groups is a burden. Patients have to raise significant funding, have to become governance experts, have to become tech experts and are over-polled, which decreases their willingness to participate in research over time. The current model is broken and isn’t scalable,”  shared Vanessa Vogel-Farley, Executive Director Dup15Q Alliance and RARE-X Advisor. “RARE-X will be eliminating these burdens for patients, through the tech enabled scaling of a modularized data collection platform, and through the educational service and support, governance support.”

In addition to patient owned data collection efforts, RARE-X is bringing forward a federated data sharing platform that will support a data library for rare disease, interconnecting data from various sources that until now have been siloed. Creating a vibrant ecosystem of open rare disease data will accelerate discovery providing opportunities for querying across disease, disease categories, phenotypes, etc, transforming biomedical research.

“The value of data increases in the aggregate and for diseases where patient populations may be small, finding connections between the genes, symptoms, and treatments can provide insights into a condition that would otherwise not be possible,“ said Steve Groft.

RARE-X’s model levels the playing field for patient communities and researchers who otherwise might not have the resources needed to assemble, access, and analyze the needed data for pivotal research by removing financial barriers that have limited the ability to harness comprehensive data sets to the largest and best endowed organizations.

“Federating Data has been desired for years within the research community. The reason it hasn’t happened yet is that it is hard to do, and industry has been trying to monetize it.” shared John Wilbanks, Sage Bionetworks. “Bringing forward an open federated data sharing effort is the right thing to do for rare disease patients and researchers, and having it be driven by a patient focused non-profit is the right approach. This will be transformative.”

RARE-X has relied on expertise from many sources, from those who believe that an effort like this will game change rare disease and help advance efforts in ways we have only imagined. RARE-X’s diverse board of directors include many who have helped develop the mission and goals from its inception. Those directors include:

  • Walt Kowtoniuk (chair), managing director, Third Rock Ventures
  • Betsy Bogard, program leader, early development, Avrobio
  • Nicole Boice, co-founder of RARE-X and founder of Global Genes
  • Peter Goodhand, executive director, Global Alliance for Genomics and Health
  • Craig Martin, principal, Rithm Health; Katherine Maynard, principal, PWR
  • David Pearce, president of innovation & research, Sanford Health
  • Anthony Philippakis, chief data officer, Broad Institute
  • John Reynders, VP of data sciences, genomics, & bioinformatics, Alexion
  • Morrie Ruffin, co-founder, Alliance for Regenerative Medicine Foundation and Adjuvent Partners
  • Alvin Shih, CEO, Disarm Therapeutics

Scientific Advisory Board members include:

  • Liz Horn, Ph.D., MBI, principal at LHC Biosolutions
  • Daniel McArthur Ph.D., Co-Director of the Medical and Population Genetics Program
  • David Pearce Ph.D., Sanford Health
  • Ethan Perlstein Ph.D., CEO of Perlara
  • Steve Rodems Ph.D., Senior Director, Discovery Biology at Retrophin
  • Ryan Taft Ph.D., Vice President, Scientific Research Illumina, iHOPE
  • Eric Wk Sid. M.D., M.H.A, program officer, National Center for Advancing Translational Sciences’ Office of Rare Disease Research
  • Christina Waters, Ph.D. M.B.A., president, CEO, and founder of RARE Science

Several patient communities are already operating on the RARE-X data collection platform and the data analysis platform is in use for non-rare disease data analysis. RARE-X is beginning work on an initial set of phase I programs that are intended to demonstrate all aspects of the platform, while working on the necessary additions to scale and support the unique needs in rare disease. RARE-X’s goal is to have hundreds of rare communities and other stakeholders gathering and sharing data utilizing RARE-X by the end of 2021.

“This initiative significantly changes the outlook for patient communities waiting for treatments,” said Matt Might, director of the Hugh Kaul Precision Medicine Institute at the University of Alabama Birmingham. “RARE-X gives patients everywhere the opportunity to become central drivers of progress in their disease and makes everyone—researchers, drug developers, and everyone else in the system who are working on their behalf—to be more effective.”

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