Genomics Solves a Mystery

Premium

Until the mid-20th century, pentosuria — a benign condition identified by the presence of five carbon sugars in a person's urine — was often misdiagnosed as diabetes, causing many people to needlessly take insulin. A study published in PNAS in October by the University of Washington's Mary-Claire King, Arno Motulsky, Sarah Pierce, and their collaborators describes two mutations in DCXR that cause pentosuria. Genome Technology's Christie Rizk spoke with King about the study. What follows is an excerpt of their conversation, edited for space.

Get the full story with
GenomeWeb Premium

Only $95 for the
first 90 days*

GenomeWeb Premium gives you:
✔ Full site access
✔ Interest-based email alerts
✔ Access to archives

Never miss another important industry story.

Try GenomeWeb Premium now.

Already a GenomeWeb Premium member? Login Now.
Or, See if your institution qualifies for premium access.

*Before your trial expires, we’ll put together a custom quote with your long-term premium options.

Not ready for premium?

Register for Free Content
You can still register for access to our free content.

Direct-to-consumer genetic testing companies have offered to test families separated at the southern US border, but that raises ethical issues.

CNBC reports that confirming a positive result from 23andMe's BRCA health report can be expensive.

The New York Times reports on a project to develop a tree DNA database to uncover instances of illegal logging.

In PLOS this week: links between gut microbiome and colorectal cancer mutations, targeted sequencing uncovers genetic susceptibilities to epilepsy in Koreans, and more.

Jun
28
Sponsored by
PerkinElmer

This webinar will review a standardized, high-throughput, and fully automated library prep protocol for human metagenomic analysis.