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A Personal Search

Using equipment he bought himself, Hugh Rienhoff got to the bottom of an apparently genetic syndrome affecting his daughter, writes Brendan Maher at Nature. Rienhoff, a biotech entrepreneur and trained geneticist, found a mutation in the gene encoding transforming growth factor-β3 in his daughter, Bea. Genes in the TGF-β pathway, Maher notes, have been linked to other diseases that have symptoms that overlap with Bea's.

"Talk about personal genomics," says Gary Schroth, an R&D director at Illumina, which helped Rienhoff in his search. "It doesn't get any more personal than trying to figure out what's wrong with your own kid."

Maher adds that the work is to be published in the American Journal of Medical Genetics.