Deadly diseases such as metachromatic leukodystrophy(MLD) have long tragically cut the lives of children short or cause them to live with significant disability or pain. A new study by Genomics England called "The Generation Study" aims to help make diseases like these a thing of the past, or at the very least help new parents prepare and properly treat their child. The study will require something which was previously a nationwide pursuit, sequencing the child's entire genome.
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| The logo for Genomics England, the group behind the study |
The test involves taking blood from the infant and using its genome to screen for over 200 rare diseases where early treatment is available. Each genome will not only help its respective child and family, but also help others by providing a genomic reference for the database if the child does develop a critical condition. Some childhood conditions are time-sensitive, and require an early diagnosis to prevent permanent damage from being done. Being able to diagnose a child early or alert the parents of potential future symptoms of a possible disease will be critical to ensure more children are able to live healthy, full lives.
Sources:
https://www.bbc.com/news/articles/cnvqyeyqn4do
https://www.genomicsengland.co.uk/news/first-newborn-babies-tested-for-over-200-genetic-conditions-as-world-leading-study-begins-in-nhs-hospitals
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