Innovation Challenge:

Shortening the Diagnostic Journey for Rare Diseases

Patients with rare diseases often spend years of their lives meeting physician after physician and, despite best efforts, remain without an explanation for their debilitating symptoms.

The Challenge

Both the non-specific symptoms of rare diseases and the lack of overall awareness among physicians, contribute to the diagnostic challenges that patients face.

The net result is that it can take more than 10 years and visits to 7 different specialists for a patient with a rare disease to receive a final diagnosis. And still, the majority of patients with rare diseases remain undiagnosed.


million people worldwide suffer from a rare disease


of those affected by a rare disease are children


of children with a rare disease will not live to see their 5th birthday

of people with classical Fabry disease remain undiagnosed

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of the symptomatic MPS I disease population remain undiagnosed

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of people with prevalent Pompe disease remain undiagnosed

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of people with Type I Gaucher disease remain undiagnosed

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Data on file.

The Opportunity

Digital technologies have revolutionized the way we work, live and play. Our online interactions with websites, smart phones and wearables effortlessly collect data about our habits and preferences, providing indicators of our lifestyles and health. What if we could leverage these digital signals to reduce the diagnostic journey for patients suffering from a rare disease?

At the same time, the technology embedded in medicine through digital systems like Electronic Medical and Health Records generates and stores an impressive amount of data every day. What if we could generate novel insights among the tangle of data to help health care systems identify patients with rare diseases more quickly?

Similarly, patients and healthcare practitioners alike turn to Google, Wikipedia, Facebook, etc. for guidance, support and information. In turn, these digital spaces are becoming more reactive and personalized to our individual quirks. What if we could “tune” these digital platforms to more effectively engage patients, who might have a rare disease, or to more efficiently educate healthcare practitioners about novel medical insights?

The Process


NEW Deadline: August 10th 

Sanofi Genzyme invites you to partner with us in reducing the time to diagnosis for rare diseases. We are looking for innovative digital health, medtech or technology companies (startups or otherwise) that can apply their technologies to the challenges that keep patients from receiving accurate, timely diagnoses of rare diseases. 

Submit Proposal

Sanofi Genzyme is looking for innovative digital solutions and services that accelerate the diagnostic journey for potential rare disease patients in the following areas:

Patients and Caregivers

How do we empower and enable patients and caregivers to reduce the length of their diagnostic journey?

Physicians & Providers

How do we enhance the front-line medical professional’s ability to identify patients with rare diseases?

Health System Tools

How do we derive insights from the wealth of knowledge in existing systems?


  1. Impact: Extent to which the solution has the potential to reduce the diagnostic journey for rare disease patients and considers the potential benefit of having other stakeholders (healthcare providers, payers, etc.) interact with the solution.
  2. Success Potential and Team Commitment: Demonstrated ability and commitment of applicant and team to develop a pilot project with Sanofi and sustain participation through completion of a pilot beyond the challenge timeframe.
  3. Innovation: Degree to which the solution leverages the unique capabilities of digital technologies to decrease the time and effort needed to obtain an early and accurate diagnosis.
  4. Vision: Extent to which the solution illustrates the future potential of digital technologies to support the needs of patients, families and providers seeking rare disease diagnoses, and provide novel insights or learnings focused on rare disease patient populations.

Submit Proposal

Daniel Gruskin

"At Sanofi Genzyme we envision a world where all rare disease patients have access to an early diagnosis and appropriate treatment. I look forward to enlisting the help of passionate partners to utilize the technology of today to work toward that goal."

Daniel Gruskin, MD - Global Head of Medical Affairs, Rare Diseases, Sanofi Genzyme

Sebastien Martel

"Through the Innovation Challenge, we have the opportunity to collaborate with like-minded partners who understand the importance of and our commitment to early diagnosis for people with rare diseases."

Sebastien Martel - Global Head of Rare Diseases, Sanofi Genzyme

Heather Bell

"Sanofi is proud to be working with leading companies around the world to implement our digital strategy. I look forward to meeting innovators who want to join us in our quest to help rare disease patients get diagnosed, faster."


  1. Kaplan W. et. al., Priority Medicines for Europe and the World 2013 Update, World Health Organization, 2013
  2. Bavisetty S. et. al., Emergence of pediatric rare diseases Review of present policies and opportunities for improvement, Rare Diseases 1, e23579, 2013
  3. EURORDIS. Rare Diseases in Numbers. non_com/docs/rdnumbers.pdf last accessed June 6th 2018

Last update: 06/2018