Putting Real World Rare Disease Data in Researcher's Hands


What is the RARE-X Data Analytics Platform, and what can I expect when I begin using it?

RARE-X partners with patient advocacy and research partners globally to collect valuable patient data and make it available to researchers on a de-identified, patient-level basis, structured to support quantitative research. The RARE-X Data Analytics Platform is a global, secure, cloud-based platform where this data is shared to enable researchers to collaborate and access data previously unavailable to them.

The Data Analytics Platform, hosted in collaboration with the Broad Institute on Terra, contains leading edge analytical tools, secure workspaces, and user friendly workflows. The RARE-X team provides vetted data governance practices to ensure that country-specific regulations related to patient privacy, data transfer and data use are met- leaving researchers and data analysts to use their time to focus on data exploration and rare disease research.

In the RARE-X Data Analytics Platform, researchers can upload data to work privately, or share data from academic studies or private registries to enable collaboration. 


RARE-X provides researchers access to rare disease patient data in 3 ways:

  • LEVEL 1: Aggregate Data – Coming Soon!
  • LEVEL 2: De-identified, Patient-level Data – De-identified data is available for researchers to use in statistical analysis for pre-clinical explorations, publications, presentations, or grant preparations. Professionals, researchers or students can apply for level 2 access via the application form below.  All Level 2 applications will be reviewed by the Data Access Committee.
  • LEVEL 3: Support in identifying and recruiting patients for clinical trials and other research studies – Please contact _____ directly with questions about clinical study recruitment.


1. Clinician

a. For most clinicians primarily interested in seeing symptoms, ages of onset, disease severity, and known mutations, the powerful data analytics capabilities of Terra will be unnecessary.

b. STAY TUNED:  For this purpose, RARE-X is working to create a simple “explorer” tool, with updated, aggregate data from the RARE-X data collection platform.  Clinicians will be able to visualize and sort data to provide high level information to inform their clinical practice.

2. Clinical Researcher

a. Clinical researchers working on one or a group of disorders with data on the RARE-X platform should request access to the RARE-X data on Terra.  External data can be pulled into the researcher’s workspace for comparative analysis, taking advantage of Terra’s tools.

b. RARE-X is currently developing a toolbox of scripts to support simple and commonly requested analyses.  These will be available in a Github repository through Terra.

3. Data Scientist

a. Data scientists familiar with cloud-based computing tools will love the workspace environment of Terra, and the ease of analyzing the RARE-X data against other data sets. Computational tools include workflow management for scalable high-throughput processing and interactive environments for data exploration, visualization and analysis.

b. Terra provides researchers with example data and analysis tools including workflows that are fully configured for tutorial or demonstration purposes, such as the Genome Analysis Toolkit (GATK), Docker, & WDL workflows.

c. Public workspaces, preloaded with germline variant calling algorithms and comparator data sets, can be used to supplement private workspace data.

d. The Github-connected tool repository offers a growing catalog of workflows contributed by 20+ organizations.

Click the button below to begin gaining access to the RARE-X Platform.

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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