The Challenges Of Combating Rare Diseases - And Five Innovations Making A Real Difference

February 29, 2020 is Rare Disease Day, an annual event that aims to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

I’ve seen first-hand the difficulties that patients with rare diseases can face. In my first week as an NHS geneticist, I met a child who, despite seeing highly specialised doctors for over a year, had not yet been diagnosed because their symptoms, findings and lab tests matched no known disease. It was only after trawling medical databases and case studies that I was able to find the likely diagnosis, subsequently confirmed. The disease was so rare that naming it here could identify the patient.

Rare Disease Day, established in 2008 by the European Organisation for Rare Diseases (EURORDIS), has helped to amplify the great work being done by patient associations, which are supported by international and national organisations such as EURORDIS and NORD, to bring together those who suffer from rare diseases and empower them to drive positive change. Recently, this issue has been put in the spotlight by Dr. Lisa Sanders’s New York Times column and a Netflix documentary series. However, rare diseases still receive much less attention than other medical challenges.

In this piece, I want to examine why this is, and look at the innovations that are helping to bridge the gap.

The full Forbes article can be viewed at this link.