Example One There are 7,000 known rare diseases and new diseases are being discovered every year ABOUT RARE DISEASE We help health providers keep up with the vitally important but ever-changing rare disease landscape LEARN MORE


One in 10 People
Have a Rare Disease

These patients typically wait 5-8 years to get an accurate diagnosis. During that diagnostic odyssey, these patients will see up to 10 different providers (half of whom are specialists), be misdiagnosed three times and inappropriately cared for at least twice, while frequently being tagged as psychosomatic or drug seekers.

50% of rare disease patients and caregivers attributed diagnostic delays to a lack of disease awareness, yet with more than 7,000 rare diseases, it is impossible for any one healthcare provider to understand all possible diagnoses.


We believe it should be easy to efficiently diagnose rare disease patients so they can receive the appropriate care they deserve.

Learn More


Unmatched Experience

Our team's combined 40+ years in the rare disease marketplace and personal experience with the rare disease diagnostic odyssey led us to believe that there had to be a better way. We knew the data to accelerate rare disease diagnoses and target patients existed in the electronic health records. We just had to figure out how to access it while protecting patient privacy and maintaining legal compliance. Rare Disease Data Trust is the solution.

Data Partnerships

75% of the patient population resides in community-based healthcare systems. We work on behalf of healthcare providers to safely and securely search their electronic health records for targeted lost or undiagnosed rare disease patients.

Search Sponsorships

BioPharma companies looking for rare disease patients sponsor searches through Rare Disease Data Trust and have input into search data models.

Alert & Educate Providers

Healthcare providers are notified when one of their patients meets criteria that suggest the presence of targeted rare disease. We provide disease state education to physicians with suspected patients. Patients and providers can then independently decide on the best path forward.

Bridge The Gap

Rare disease patients are quickly identified, triaged, and diagnosed, without the typical and dangerous diagnostic odyssey. Providers and patients can make informed clinical decisions about their care. This allows healthcare providers to administer quality care for some of their most vulnerable patients, while generating meaningful revenue from patient-centric data mining.

Slide Let's do this check_circle Accelerated and accurate diagnosis for rare disease patients check_circle Mitigate the risk of commercial launch for new solutions check_circle Consistently reach your customers and meet your sales quotas check_circle Reinvest in research and development of more innovative solutions check_circle Maintain compliance with applicable law including the Health Insurance Portability and Accountability Act of 1996 and the regulations thereunder (“HIPAA”) and the federal Anti-Kickback Statute (“AKS”) Schedule a call Henri Termeer, one of the greatest and most successful visionaries in biotech. Henri Termeer believed you could change the world and he did so for many people suffering from devastating diseases. He often said that if we can create medicines to help people, it is our responsibility to do so no matter how complex or difficult the task. Under his leadership, he fulfilled this mission and in doing so grew Genzyme from a modest entrepreneurial venture to one of the world's leading biotechnology companies and a pioneer of some of the first treatments for rare genetic diseases. Henri passed in May 2017.