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The Rare Ones

The more rare a disease is, the more people want to help unravel its origin, University College London's Maria Bitner-Glindzicz tells the New Scientist.

As part of 100,000 genomes initiative in the UK, Bitner-Glindzicz and her colleagues will be focusing on the genomes of children with rare diseases and their parents. Others, she notes, will be tackling cancer genomes.

"I've been sought out by a number of parents who have children with severe medical problems," she tells New Scientist.

This initiative may help patients and their parents find a diagnosis and get a handle on what the prognosis may be. "[I]t's no good all your doctors saying, 'Oh, how interesting, your child has this sort of condition. Gosh, I've never met anyone with that," she says. "The project will increase our knowledge of a lot of rare disorders."

But how soon these findings will lead to treatments may vary. For some conditions, there may already be an approved drug, while for others there might not yet be one. "A number of treatments for genetic diseases are already being designed and trialled, and in the next five to 10 years that's going to accelerate," Bitner-Glindzicz adds.