A Personal Search | GenomeWeb

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.

Get the full story

This story is free
for registered users

Registering provides access to this and other free content.

Register now.

Already have an account?
Login Now.

Related Posts

In Science this week: a global genetic interaction map for Saccharomyces cerevisiae, and progress made in genomics, precision medicine, and therapeutics.

The price of plane tickets can affect how scientists in different countries choose to collaborate with each other, NPR reports.

The Annals of Improbable Research has awarded the 2016 Ig Nobel Prizes.

Scientific American alleges that the FDA has been "arm-twisting journalists into relinquishing their reportorial independence."