The DNA database that is key to beating our rarest diseases
Jillian Hastings Ward gave birth to her second child, Sam, almost four years ago. For the first few months of his life, the boy appeared to be in good health. "Then we realised that he was not making proper visual contact, and discovered he was blind," Hastings Ward recalls. Subsequent diagnosis also revealed that Sam was not progressing intellectually. "His brain just couldn't join the dots," she says. Today Sam has the mental development of a six-month-old child.
At the time of his diagnosis, it was not apparent what was affecting him. Then Hastings Ward and her husband Nick, who live in Bristol, were told about a pioneering scheme launched by the Department of Health. The 100,000 Genomes Project involves several teams of scientists, all of whom have been working towards a remarkably ambitious goal: the sequencing of 100,000 genomes of individuals affected by rare disorders and cancers. Later this month, the project - which was given the go-ahead by prime minister David Cameron in 2012 - will reveal that it has reached its halfway point and has sequenced its 50,000th genome. This news will be followed with the announcement later this year of major initiatives aimed at ensuring that the UK becomes a world leader in genomics medicine.
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