Researchers

Access to the Right Data at the Right Time will be game changing

The primary challenge influencing the speed and productivity of innovation in rare disease is cost and the lack of reliable or open access to comprehensive patient data.

This is because…

The data exists, but is captive within a silo, institutional or company-owned, because of institutional / technological constraints, or is being held for exclusive commercial purpose

The data may exist, but not in a useful form, where it is available, visible or useful to researchers or patient communities.

The data doesn’t yet exist (because patients can’t access genomic or other testing, there is not a way to effectively collect patient-reported information, etc.).

To address these needs and challenges RARE-X is building a platform that breaks down barriers to access ‘the right data’ while supporting the open sharing of this data at ‘the right time’, to accelerate advancements in rare disease understanding and therapy development. The RARE-X technology platform will include:

  • Diagnostic Decision Support Engine for Clinicians + Whole Genome Sequencing where needed
  • Data Collection Platform and Patient Data Portal Development – built to scale
  • Data Use Oversight Technology
  • Federated Data Sharing Technology
  • Rare Disease Federated Data Library

The Technology Platform of RARE-X includes:

Federated Data Capabilities and a Rare Disease Federated Data Library

  • Supporting an ecosystem of discovery
  • Cross disease research
  • Basket Trials
  • Interconnecting disparate data

Data Collection Platform and portal development built to scale

  • Developing Standardized/Common Data Modules (starting in Neuro)
  • Ease of Use for patients
  • Supporting – genotypic/phenotypic and other data (including other tech partners)
  • Supporting Research-Ready (Fit-for-purpose) data collection
  • Emphasis on strong governance and patient support
Solving for X

Our Philosophy Makes RARE-X Unique:

  • Patients should own their data and be supported to do it properly and easily
  • Data Collection should be systematized to help support large scale global harmonization and usage.
  • Opening up data (where possible), will level the playing field – creating more opportunities for discovery

The value of data increases in the aggregate. 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.

Stephen Groft, former Director of the National Institutes of Health’s Office of Rare Diseases Research
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