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Comparing list of suspect de novo mutations to ExAC reference exomes helps researchers refine the set of mutations thought to play a role in neurodevelopmental disorders

Researchers have found that a genetic mutation that effectively "breaks" the gene RNF186 confers protection against ulcerative colitis, a chronic inflammatory bowel disease.

One of the first protein polymorphisms identified in humans involves alternative forms of haptoglobin, one of the most abundant proteins in the blood. The genetic origins and medical significance of this variation have puzzled scientists since its discovery. Now, a team of researchers from the Ó³»­´«Ã½â€™s Medical and Population Genetics Program led by institute member Steve McCarroll and postdoctoral associate Linda Boettger has revealed that haptoglobin variation likely arose from the combined effects of many deletions among human ancestors. , published this week in Nature Genetics, goes on to find that these deletions contribute to lower blood cholesterol levels. The findings may also represent an interesting example of exon deletions that exert a beneficial effect on protein structure and human health.