‘Next-generation’ whole exome sequencing project diagnosing rare diseases

If you’re lucky enough to see Holly Burns smile, you know it’s for real. The mousy-blonde-haired, blue-eyed four-year-old who will never walk, run or speak more than a few words physically can’t fake it. Mum Amanda Burns says Holly is strong-willed and determined to try to play the games her siblings play. Photo: Supplied Ask her to pose for a photo and she tries and tries but a rare genetic disease affecting one in 40 million has eaten away at the white matter in her brain. “Because the messages don’t get from her brain out to different parts of her body…
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