New Breakthrough in Orphan Disease Diagnostics?

 In From the science community

Any disease affecting fewer than 5 people in 10,000 in the EU is considered rare or an “Orphan Disease”. Although this might appear small, it translates into approximately 246,000 people. Most patients suffer from even rarer diseases affecting 1 person in 100,000 or more. Approximately 5,000-8,000 distinct rare diseases affect 6-8% of the EU population i.e. between 27 and 36 million people.

A new fast-track DNA test for babies and children which scans for thousands of rare diseases has been rolled out across the NHS in England.

The technique, called “whole exome sequencing”, can scan around 20,000 human genes in just 27 hours – a process which used to take 10 days.

That means quicker diagnoses of around 5,000 rare conditions.

Around 80 babies and children have been tested since it was introduced in October 2019 and the NHS hopes up to 700 patients will benefit each year.

For more information:

For more details also refer to the EUs website on the topic and the OrphaNet Website

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