Sanofi Genzyme Creates Challenge to Find Digital Technologies to Speed Rare Disease Diagnoses

Rare Daily Staff

Sanofi Genzyme has issued a call for submissions for its Rare Innovation Challenge, an effort to find innovative digital health, medtech, and technology partners who can harness technology to improve the speed and accuracy of diagnosis for patients with rare diseases.

Sanofi Genzyme notes that it can take more than 10 years and visits to seven different specialists for a patient with a rare disease to receive a final diagnosis. The reality for most patients with a rare disease is that they are undiagnosed. That’s in part because many symptoms of rare diseases can be indications of more common ailments and most physicians lack awareness of rare diseases.

Even in cases where treatments exist, most patients are living without a diagnosis. The company notes that for rare diseases for which it markets treatments, approximately 81 percent of people with Fabry disease, 86 percent of people with MPS 1, 95 percent of people with Pompe disease, and 78 percent of people with type 1 Gaucher disease remain undiagnosed.

Sanofi Genzyme is hoping to change the diagnostic odyssey by harnessing available technologies to improve the speed and accuracy of rare disease diagnoses. The proliferation of digital technology is changing all aspects of people’s lives. Websites, smart phones, and wearables provide new sources of data that can be gleaned for information about lifestyles and health. Electronic medical records also provide warehouses of data that can generate novel insights to help identify patients with rare diseases.

At the same time patients in search of answers often turn to Google, Wikipedia, Facebook, and other websites for information that can be used to engage patients and educate healthcare practitioners

“At Sanofi Genzyme we envision a world where all rare disease patients have access to an early diagnosis and appropriate treatment,” said Daniel Gruskin, global head of medical affairs, rare diseases for Sanofi Genzyme. “I look forward to enlisting the help of passionate partners to utilize the technology of today to work toward that goal.”

The Rare Innovation Challenge submissions are due July 27 and should be submitted directly through Rare Innovation Challenge website.

June 29, 2018