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New study aims to spot genetic disease in babies
The Journal
|May 02, 2025
NEWBORNS in Newcastle could be part of a world-leading study looking to catch rare genetic diseases earlier than ever.
A team at the Royal Victoria Infirmary is carrying out the scheme known as the Generation study in order to test for more than 200 potentially life-altering conditions.
This is done by taking blood from the baby's umbilical cord and using that to analyse the entirety of a baby's genetic make-up.
That's done through a method known as whole genome sequencing and, while it can identify genes which determine height and eye colour, it can also be used to find genetic patterns or variations that may be indicators of conditions that a child would develop as they grow up.
This story is from the May 02, 2025 edition of The Journal.
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