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

Mary Lyon Dies

Boon and Bane

This Week in Science

Both at the Same Time

Out There

A panel at the New York Times discusses anonymity and privacy of users of 23andMe's services when access to its database is offered for research.

National Institutes of Health Director Francis Collins appears before a House subcommittee to discuss his agency's budget request.

In PNAS this week: Akt3 amplification in glioma progression, Tibetan Plateau frog genome, and more.

The US Supreme Court has declined to review a decision involving the use of "inadvertently shed" DNA in a police investigation and subsequent conviction.