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.
  • Gerstner Family Foundation commits $10 million to Broad Institute to overcome cancer drug resistance

    May 18th, 2015
    New gift from the Gerstner Family Foundation will help identify the mechanisms that drive cancer drug resistance and pave the way for new treatments
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  • Study explores role of BCL11A in neurodevelopment

    May 12th, 2015

    Fetal hemoglobin, which is normally replaced by adult hemoglobin a few months after birth, can ameliorate symptoms of beta-thalassemia and sickle cell anemia. Boosting fetal hemoglobin by inhibiting the transcription factor BCL11A holds therapeutic promise, but BCL11A's role in the body isn’t fully understood. To study its in vivo effects, a team led by Broad associate member Vijay Sankaran, Mark Daly, co-director of the Broad’s Medical and Population Genetics Program, and Zdenek Sedlacek of University Hospital Motol (Czech Republic) identified and characterized three patients with an autism spectrum disorder and developmental delay who harbored deletions of the BCL11A gene. The study, appearing in the Journal of Clinical Investigation, provides evidence of BCL11A’s role in neurodevelopment and suggests caution when developing BCL11A-targeting therapies.

  • GTEx findings reveal new insights into how DNA differences influence gene activity, disease susceptibility

    May 7th, 2015
    NIH-funded pilot study provides a new resource about variants across the human genome
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  • New paper addresses “on-target” effects of engineering human pluripotent stem cells

    May 6th, 2015

    Human pluripotent stem cells (hPSCs) are useful tools for studying disease, performing chemical screens, and looking for cellular therapies. But in these scenarios, studies with hPSCs are only as good as the genome engineering processes used to investigate them. The leading method for doing so is the CRISPR-Cas9 system, which can target one allele or another as it cuts DNA at specific points along the genome. The approach is extremely powerful for studying biology, but it can also introduce unintended mutations.

  • Tool for annotating cancer-related variants now publicly available

    May 5th, 2015

    Cancer genome sequencing can reveal thousands of mutations per tumor, but scientists need more data to interpret those variants. Since 2011, members of Broad's Cancer Genome Analysis team have used Oncotator, a tool for annotating cancer-related variants, resulting in more than 20 publications. In the journal Human Mutation, a team led by Broad researchers Gad Getz, Alex Ramos, and Lee Lichtenstein announced the first public release of Oncotator, which draws information from 14 publicly available cancer resources and is available as a python module hosted on Github, as well as a web service and stand-alone application.