Two brothers’ rare genetic condition detected early through pioneering study
- Two 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.
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