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.

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