A Mayan discovery

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Maya is a four-year old delight. She’s wiggly and giggly and has a partner in crime, her dog Parker. She loves animals, other kids, being naughty, and life as a whole.

She has also undergone multiple operations, does not speak, and is developmentally delayed. No one knows why. As her mother Dana wrote a couple of weeks ago, “When you’ve been looking for the answer for three and a half years, you don’t really expect one anymore.”

But maybe the search is nearing an end. With fundraising and logistical help from the Rare Genomics Institute, researchers at Yale have sequenced Maya’s exome, i.e., the entire protein-coding part of her genome. They appear to have identified a de novo (not seen in the parents) nonsense (one that presumably causes no protein to be made) mutation in a gene implicated in fetal and childhood development. As far as anyone knows, this particular variant has never been seen before, though, as RGI founder Jimmy Lin says, much remains to be done.

What is arguably just as impressive is that this exome sequencing was crowdfunded: RGI solicited donations on its website and within six hours raised more than $3500. If you’re so inclined (and it will make you feel good, I swear), Gram is within striking distance!

(Photo from Uncommon Sense)

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