In Nature Genetics, Johns Hopkins researchers have shown that two distinct diseases, Bardet-Biedl syndrome (BBS) and Meckel-Gruber syndrome (MKS), actually have the same genetic causes. Using sequencing and zebrafish knockouts, they found that the two diseases are a "continuum of one disease," says lead author, Nicholas Katsanis. "This never would have been discovered in the clinic -- only molecular analysis can reveal these things."
In another Nature Genetics article, researchers at Edinburgh's MRC Human Genetics Unit have found what they think may be a susceptibility gene for gout. The variation they found in the SLC2A gene appears to make it harder for the body to remove uric acid from the blood, reports this BBC article.