A Personal Search

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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.

http://www.scientificamerican.com/article.cfm?id=a-fathers-genetic-quest-pays-off 

Nature 449, 773–776; 2007