Shire, Microsoft ally to accelerate diagnosis of rare diseases

Flemming Ørnskov
Shire CEO Flemming Ørnskov. (Image: Shire)

Shire and Microsoft have joined forces to cut the time it takes to diagnose rare diseases in children. The companies are part of a star-studded commission that is working on a road map for improving outcomes in rare diseases.

Flemming Ornskov, M.D., the CEO of Shire, is co-chairing the commission alongside leaders from Microsoft and the third pillar of the project, EURORDIS. The co-chairs are overseeing a group made up of leaders in genetics and rare diseases, including the Broad Institute’s Daniel MacArthur, Ph.D., and Centogene CEO Arndt Rolfs, M.D.

The first step for the commission is to gather input from patients, experts and others to influence the direction of its roadmap, which is scheduled for publication early next year. That document will give a fuller picture of what levers the commission plans to pull to accelerate diagnosis timelines. But, as the involvement of Microsoft suggests, it is already clear technology will play a role.


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“We're seeking innovative ways to integrate emerging technologies into our efforts, which will play a critical role as we strive to impact the diagnosis journey,” Microsoft CMO Simon Kos, M.D., said in a statement.

Today, the diagnosis journey for some patients drags on for years. This delays the start of appropriate treatment, causes stress for patients and families and adds to healthcare costs. For drug developers with a stake in the rare disease space such as Shire, it also limits potential financial returns in disease areas where late diagnoses are common. 

The main barrier to fast diagnosis is the lack of tests that equip doctors to quickly identify the cause of symptoms. Addressing this problem is one area of focus. The commission’s other priorities are to help patients and their families play a more active role in their heath, and to provide policy guidance that drives improved outcomes. 

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