The start of a new year offers the opportunity to review organizational highlights over the previous 12 months. Here are several exceptional events and peer-reviewed papers from 2024.
January:
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SeaHub launches: While the collaboration was announced in December 2023, the Seattle Hub for Synthetic Biology officially launched in January. It is a project of BBI, the Allen Institute, the Chan Zuckerberg Initiative and the University of Washington, building new technologies to record the history of cells over time. See: https://brotmanbaty.org/news/bbi-and-uw-medicine-launch-new-age-of-experimentation-with-allen-institute
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Paper: BBI’s Doug Fowler and Heidi Rehm of the Broad Institute write that clinicians and researchers can realize a future where variants of unknown significance have largely been eliminated, and that the time needed to achieve this goal by 2030 is largely a consequence of the choices made now and in the next few years. Will variants of uncertain significance still exist in 2030? American Journal of Human Genetics
February:
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SASI meeting: Mary O’Neill, Ph.D., BBI’s director of Single Cell Genomics, convened the first meeting of a new Seattle Area Single Cell (SASC) user group, which creates connections and fosters collaborations among single cell researchers. See: https://brotmanbaty.org/news/seattle-area-single-cell-user-group-to-launch-february-13
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Paper: Several BBI faculty and researchers hope their deep sampling will aid “progress towards a more comprehensive, continuous view of transcriptional dynamics throughout prenatal development.” See: "A single-cell time-lapse of mouse prenatal development from gastrula to birth" published in Nature.
April:
- The Allen Institute hosted a celebration of The Seattle Hub for Synthetic Biology (SeaHub), which included tours and a panel discussion. See: https://brotmanbaty.org/news/panel-on-seattle-hub-for-synthetic-biology-explores-projects-objectives-and
May:
- Experts in the fields of functional genomics, protein science, precision medicine, variant interpretation, and computational genetics convened at the Broad Institute for the seventh annual Mutational Scanning Symposium. Learn more: https://brotmanbaty.org/news/mss-2024-recap-and-observations-from-sumaiya-iqbal-and-doug-fowler
July:
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More than 40 interns from BBI’s three institutions gained new observations and insights on career trajectories at the annual BBI-sponsored intern forum-luncheon, providing undergraduates the opportunity to meet informally with principal investigators and faculty outside the classroom or lab. See:https://brotmanbaty.org/news/annual-intern-forum-luncheon-provides-students-opportunities-to-discuss
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Three BBI representatives were among a group of researchers, clinicians, funders, and other stakeholders convened in Pittsburgh and established recommendations to create a clinical atlas of genetic variant effects by 2030. The atlas would have “profound implications for understanding human biology and diagnosing and managing disease.” Learn more: https://brotmanbaty.org/news/researchers-clinicians-funders-create-roadmap-for-clinical-atlas-of-variant
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Paper: In Nature, BBI Scientific Director Jay Shendure and others conclude that the symbolic recording of biological signals or states within cells has broad potential to complement contemporary paradigms for how measurements are made in biological systems. See: “Symbolic recording of signalling and cis-regulatory element activity to DNA”
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Paper: BBI’s Cole Trapnell writes “statistical concepts, models, tools and algorithms can be repurposed to solve problems now arising in genetic and molecular biology studies of development and disease,” in Nature Reviews Genetics. Read here: Revealing gene function with statistical inference at single-cell resolution
September:
- Paper: The American Journal of Human Genetics published an AI-based study by BBI researchers and the University of Washington that concludes calibration of specific genes is needed to more accurately use data from models that predict whether genetic variants are pathogenic or benign. See: “Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes”
October:
- BBI’s Danny Miller, M.D., Ph.D., hosted the second, and now annual, Long Read Sequencing Symposium, with the goal to bring together Seattle-area users of long-read sequencing to learn from each other, build new collaborations, and to explore potential synergies among users. Learn more: https://brotmanbaty.org/news/q-and-a-with-dr-danny-miller-recapping-the-2024-long-read-sequencing
November:
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The Chan Zuckerberg Initiative awarded BBI $4.5 million to advance its work on genetic variants, including partnering with patient organizations within CZI’s “Rare As One” Project. The two-year endeavor will enable BBI to make progress toward creating a comprehensive Atlas of Variant Effects, benefitting clinicians and individuals carrying rare genetic variants. Learn more:https://brotmanbaty.org/news/chan-zuckerberg-initiative-supports-bbi-to-better-understand-of-genetic
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Three BBI scientists – Riza Daza, Jay Shendure, and Cole Trapnell – are recognized as “Highly Cited Researchers” by Clarivate, a London-based analytics firm. See: https://brotmanbaty.org/news/bbi-scientists-recognized-as-highly-cited-researchers
