Five years until a rare disease has been diagnosed properly? – Global commission wants to speed diagnosis

Fri, 2018 / 05 / 04

About the author

Ihr Ansprechpartner Prof. Matthias P. Schönermark, M.D., Ph.D.
Prof. Matthias P. Schönermark, M.D., Ph.D.
Founder and Managing Director
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The „Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease” has been founded this March to eliminate barriers for an accurate and early diagnosis of rare diseases. This is extremely relevant, because it takes five years on average until a rare disease has been properly diagnosed. The commission aims to reduce the diagnostic odyssey, especially for children as they present about half of all rare disease patients.

The strategic alliance of the companies Shire, Microsoft and EURORDIS-Rare Diseases Europe forms a multidisciplinary commission of experts and creative thinkers. The commissions’ goal is to develop a roadmap with recommended actions which address core barriers preventing timely diagnosis until January 2019. The focus is on three interest groups, for which the following questions should be answered: How can physicians enlarge their knowledge of rare diseases? How can patients and their families be empowered? How can politics expand their advising actions?

The SKC Beratungsgesellschaft welcomes the foundation of the commission, because with an early diagnosis, exact therapeutic actions can be introduced faster, possibly leading to improved living conditions of the patients. SKC, the leading strategic consultancy for healthcare in Germany, supports and advises pharmaceutical entrepreneurs in the process of market access with the objective to bring the orphan drugs to the German market. Read more about “orphan drugs in Germany” in our Whitepaper.

BY Prof. Matthias P. Schönermark, M.D., Ph.D., managing director and Karolin Priese, MBA

Sources:
Global Rare Disease Commission
Fierce Pharma: Shire CEO sees Microsoft tie-up building momentum for faster rare disease diagnosis
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