Gene-sequencing gives families of unknown genetic disorders hope

“Yes, my husband had to resuscitate him,” says Rachel Jeffares calmly, as she describes one particularly traumatic episode when her three-year-old son Nate stopped breathing at home one night.

But they are used to dealing with the unknown.

The first 18 months of his life were “a blur of change and not knowing”, Rachel says, because Nate has an undiagnosed genetic disorder which left him unable to move, breathe, make a noise or feed when he was born.

Nate’s family, from Gateshead, and many others like them are hoping that gene-sequencing technology will give them a name for his condition and an idea of what his future holds.

Read the full, original story: Technology is helping to give genetic disorders a name

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