News from the Broad

The Broad Institute is committed to open sharing not only of its scientific data and tools, but also information and news about our progress towards achieving our mission. Below are just a few highlights from the Broad scientific community.
  • Global Alliance for Genomics and Health marks two years of progress

    June 10th, 2015
    Over 250 scientific leaders convene in the Netherlands to maximize the potential of genomic medicine
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  • CRISP-Disp leverages CRISPR-Cas9 to deliver RNA structures to targets in the genome

    June 9th, 2015

    A team of researchers from the Broad Institute and the Harvard Stem Cell Institute has developed CRISP-Disp, a method that expands on the CRISPR-Cas9 system, allowing researchers to display multiple, large RNA structures on the Cas9 protein. The method enables the researchers to deliver artificial RNA devices — such as RNA processors, scaffolds, and imaging applications — to specific points on the genome. The work was led by John Rinn who, with his colleagues, is using the approach to better study long, non-coding RNAs (lncRNAs), which are hard to study using traditional knockout methods. With CRISP-Disp, the researchers can relocate lncRNAs to study them in isolation. To learn more, read the team’s paper, which was published online by the journal Nature Methods.

  • Small probes and their bigger implications

    June 8th, 2015

    Human genetics studies provide insight into how an ideal drug might target and modify a disease-causing protein. But, oftentimes, these “experiments of nature” indicate the need for drugs that act through novel mechanisms. A review by Broad Institute researchers Stuart Schreiber, Joanne Kotz, and colleagues published in Cell outlines recently completed, decade-long Molecular Libraries Program (MLP) — an NIH effort to identify small-molecule probes that could help explore human biology. From malaria to multiple sclerosis and diabetes, the authors describe how these probes are enabling the investigation of disease hypotheses that would be difficult to explore via other approaches, advancing therapeutic discovery.

  • Study details mechanism for new mutational phenomenon ‘chromothripsis’

    June 2nd, 2015

    Although it has been known for some time that cancer genomes can be replete with rearrangements and mutations that accumulate over time, sequencing efforts recently identified additional types of mutations that appear to happen within a single cell cycle. One of these types, chromothripsis, causes rearrangements and DNA copy number variation restricted to only one or a few chromosomes. In the journal Nature, Broad researchers Cheng-Zhong Zhang, Joshua Francis, Matthew Meyerson, David Pellman, and colleagues describe how chromothripsis can occur, involving the formation of “micronuclei,” as an outcome of aberrant cell division. These findings uncover a potentially under-acknowledged source of genetic variation and show how chromosome segregation errors can contribute to cancer.

  • NEJM articles address state of clinical genomic testing

    June 1st, 2015

    Of the more than 80 million known genetic variants, few are well understood for their roles in human health and disease. To overcome this gap in knowledge, large consortia studies need to share data across traditional boundaries — a hard task when there are few standards in place to harmonize those data. In a special report in the New England Journal of Medicine, Broad institute member and Clinical Research Sequencing Platform (CRSP) clinical director Heidi Rehm and colleagues describe the NIH-funded ClinGen program, which aims to be an authoritative central resource for defining the clinical relevance of genomic variants for use in precision medicine and research. GenomeWeb wrote about the report, which was among a set of papers published by the journal that addressed the promises and challenges of clinical genomic testing.