Four-year-old Maya Nieder has global developmental delays and while a number of genetic tests have been unable to suss out the cause, exome sequencing of her DNA — thanks to a crowdfunding initiative — has uncovered a novel gene variant that may be behind it, reports Talking Points Memo. The sequencing was performed by researchers at the Rare Genomics Institute in St. Louis, Mo., and is one of 10 pilot projects focusing on children with rare diseases, a press release from the institute adds. RGI doesn't name the gene, but Dan Koboldt at MassGenomics writes that he's been told it is a de novo nonsense mutation. RGI says it is investigating the protein encoded by the gene.
Koboldt raises some concerns about the presentation of the project at his blog — that Maya's name was released and that the science has yet to be peer-reviewed and published in a journal. "That being said, I'm writing about this because it's a good story. Friends, relatives, and total strangers made cash donations, in tough economic times, to help this little girl," he writes. "As Daniel MacArthur (@dgmacarthur) put it on Twitter, this story makes me feel good about humanity."