Two brothers’ rare genetic condition detected early through pioneering study

Jump to contentAllNewsSportCultureLifestyleTwo brothers have been identified with a genetic change linked to adrenoleukodystrophy (ALD) after their mother signed up for a trial while pregnant in hospital. The Generation Study, led by Genomics England and NHS England, is screening 100,000 newborn babies to evaluate the use of whole genome sequencing across the NHS. The early diagnosis allows eight-month-old Revan and four-year-old Thorin to undergo regular scans and blood tests so doctors can intervene before severe symptoms appear. ALD is a rare progressive condition affecting vision, movement and adrenal glands, which is typically difficult to treat once physical symptoms develop. More than 85,000 families have joined the study so far, which aims to catch over 200 rare genetic conditions before symptoms manifest. In fullBrothers found to be at risk of rare condition after ‘bored’ mum enrolled them in studyMore bulletinsThank you for registeringPlease refresh the page or navigate to another page on the site to be automatically logged inPlease refresh your browser to be logged in

Raccontata daindependent.co.uk