Global Commission

to End the Diagnostic Odyssey for Children with a Rare Disease

Member Blog

Learn more about their updates, perspectives,
and announcements by reading the Member Blog:

February 26, 2021

11 Key Principles of Newborn Screening to Reduce the Diagnostic Odyssey

By Yann Le Cam, Global Commission Co-Chair

EURORDIS recently collaborated with the Council of National Alliances to publish a position paper titled “Key Principles for Newborn Screening” to address the discrepancies among Europe’s newborn screening policies and call for a harmonised and integrated healthcare approach to help accelerate time to diagnosis for children living with a rare disease and improve access to treatment.

August 12, 2020

The Challenges of Diagnosing Rare Genetic Diseases

By Marshall Summar, M.D.

The New York Times recently published an article about the field of rare genetic diseases, and the experiences of families navigating diagnosis and treatment. Read more about my team’s contributions and my thoughts on this important topic - and how the work of the Global Commission has the potential to help families and patients living with a rare disease.

May 15, 2020

Learnings from ECRD 2020

By Gareth Baynam, Ph.D.

This week, I had the opportunity to speak virtually at the ECRD 2020 annual meeting where I shared my thoughts on new approaches that integrate our life languages to shorten the diagnostic odyssey, and heard from some of the most influential representatives in the rare disease space. Read more about my talk and key takeaways from the event!