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.
  • Haptoglobin variation: new insights into roots and role

    February 26th, 2016

    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 Broad Institute’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. The study, 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.

  • Restoration of Shank3 gene activity in adult mice aids recovery from some neurodevelopmental deficits, but not others

    February 17th, 2016

    A longstanding question in neurodevelopmental biology has been whether, or to what degree, traits resulting from neurodevelopmental disorders might be reversible.

    In a study published this week in Nature, a team led by Guoping Feng of the McGovern Institute for Brain Research at MIT and the Stanley Center for Psychiatric Research at Broad Institute, McGovern’s Yuan Mei, and Broad’s Patricia Monteiro, looked at mice born with impairments to Shank3, a gene known to contribute to a subset of autism cases. By reactivating the gene at different times of development, the researchers found that certain behavioral abnormalities caused by the impairment to Shank3, such as social deficits and repetitive behaviors, could be rescued even in adulthood, while other traits, such as anxiety and motor coordination deficits, could only be rescued early in development. The findings inform our understanding of brain plasticity and suggest that therapeutic interventions for neurodevelopmental disorders may be more effective if delivered early in development. Read more about their findings in MIT News.

  • New approach models NAHR abnormalities

    February 14th, 2016

    Genetic disorders are often hard to model. This is particularly true for those caused by non-allelic homologous recombinations (NAHR) — which occur when highly similar portions of the genome wrongly recombine. A new study from Broad associate members James Gusella and Michael Talkowski, both of Massachusetts General Hospital (MGH) and Harvard Medical School (HMS), and first author Derek J.C. Tai, also of MGH and HMS, describes a new method for using the genome engineering tool CRISPR/Cas-9 that accurately models NAHR abnormalities. Find out more about this new approach and what it means for the study of genetic disorders in Nature Neuroscience.

  • Broad Institute founding director Eric S. Lander receives the 2015 Abelson Prize

    February 11th, 2016
    The American Association for the Advancement of Science (AAAS) honors Eric Lander with Abelson Prize for "work bringing science to bear in serving the public’”
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  • New HDAC inhibitor toolkit helps reveal potential therapy to protect pancreatic β-cells from effects of diabetes

    February 2nd, 2016

    Histone deacetylase inhibitors (HDACi) hold therapeutic potential for many diverse diseases, including psychiatric disease and diabetes. But so far, most HDACi were found to inhibit more than one histone deacetylase, a characteristic that can decrease efficacy and contribute to side effects. In work published in ACS Chemical Biology, researchers Edward Holson and Florence Wagner of the Broad’s Stanley Center for Psychiatric Research, and colleagues present a toolkit of highly potent and differentially selective HDACi, which they developed to understand the role of histone deacetylases in cognition. The paper also reports the results of a collaboration with Bridget Wagner of Broad’s Center for the Science of Therapeutics, who used the toolkit to reveal that the isoform selective inhibition of HDAC3 by BRD3308 protects pancreatic beta cells from the effects of diabetes.