Research Roundup: October 12, 2018

Tracking the microbiome in ulcerative colitis, and measuring coding and noncoding variants' effects.

Len Rubenstein
Credit: Len Rubenstein

Welcome to the October 12, 2018 installment of Research Roundup, a recurring snapshot of recent studies published by scientists at the Broad Institute and their collaborators.

Colitis clues in children's microbiomes

Forecasting how a child with ulcerative colitis (UC) will respond to treatment is a tricky proposition, but the microbiome may hold useful clues. To help find them, Melanie Schirmer, Hera Vlamakis, associate member Curtis Huttenhower, core institute member and Broad Infectious Disease and Microbiome Program co-director Ramnik Xavier, and colleagues from the PROTECT study tracked the gut microbiomes of more than 400 children with UC for a year after diagnosis. They found clear associations between microbiome composition and disease severity at diagnosis, and between composition changes and treatment response. Their findings, published in Cell Host & Microbe, could help doctors use the microbiome as a therapeutic resource, and as a prognostic biomarker. Learn more in a Broad news story.

The functional architecture of uncommon alleles

Uncommon genetic variants can have disproportionately large effect sizes on complex traits, providing a valuable source of biological insight, but their relative contributions from coding and noncoding regions of the genome remain unclear. To examine this architecture, a team led by postdoctoral scholar Steven Gazal and Broad associate member Alkes Price in the Program in Medical and Population Genetics compared the heritability contribution of uncommon and common genetic variants underlying 40 traits in the UK Biobank, across a broad set of coding and non-coding regions of the genome. The study offers guidance for the design of association studies targeting low-frequency or rare genetic variants. Read more about their results in Nature Genetics.

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