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Broad scientists and partners around the world made a major leap in understanding the genetics of #schizophrenia with two studies, one of which -- called the SCHEMA study -- reveals rare mutations in 10 genes that definitively and substantially raise schizophrenia risk, in one case by more than 50-fold.
Molecules that change the makeup of cells in the body’s barrier tissues – the skin, the airway, and the gut – could help treat diseases in which certain cell types are depleted or dysfunctional. Researchers from the Broad, MIT, Brigham and Women’s, and the Ragon Institute used 3D intestinal organoids, or “mini-organs in a dish,” to find a molecule that boosts protective Paneth cells in the gut. The approach could be applied to other barrier tissues in the body to study their biology and explore ways to alter their cellular composition therapeutically.
Machine learning and massive-scale synthetic biology experiments have yielded a new "fitness landscapes" that probe the links between noncoding DNA variants, gene expression, cell fitness, and evolution; and that can help scientists engineer variants for biotechnology or gene therapy.
At the Center for the Development of Therapeutics (CDoT), Broad scientists are working on a hybrid model of drug discovery — a research environment that combines deep knowledge of disease biology with the pace and focus of industry to move compounds with therapeutic promise toward the clinic. “This is a really exciting new model,” said Alex Burgin, CDoT’s senior director. “Not every project will reach the clinic, but we’ll be much more likely to succeed when we’re immersed in the biology, especially with tools like genomics, proteomics, imaging, and machine learning at our fingertips.”
With their new CRISPR-based mCARMEN technology, Broad and Princeton scientists can differentiate between COVID variants, which helped them survey Omicron’s prevalence in Massachusetts during the surge in December 2021. mCARMEN is faster, more sensitive, and more easily implemented in clinical and surveillance labs than the earlier CARMEN technology, and could potentially be used more widely during future outbreaks of SARS-CoV-2 or other pathogens.
As a computational scientist, first in the Genomics Platform and now in the lab of Gaddy Getz within the Cancer Program, Junko Tsuji aims to ensure the quality of sequencing data and support studies that may one day improve human health. In a #WhyIScience Q&A, she reveals her earliest scientific inspirations, the challenges of working in an emerging scientific field, and advice for aspiring computational scientists.
sc-eVIP is a massively-scalable, unbiased, information-rich approach developed by Oana Ursu, J.T. Neal , Jesse Boehm, Aviv Regev, and colleagues for analyzing the function of coding variants. In Nature Biotechnology, they report on proof-of-concept sc-eVIP studies using cancer-associated TP53 and KRAS variants. Their results call into question the practice of dividing cancer mutations into "drivers" & "passengers."
Researchers have developed a way to get gene editing proteins inside cells in animal models with high enough efficiency to show therapeutic benefit. Using engineered virus-like particles (eVLPs), the team disabled a gene in mice that can be associated with high cholesterol levels, and partially restored visual function to mice harboring a mutation that causes genetic blindness.
As a software engineer, Kiara Westbrooks (she/her) works on tools that help people share their data with scientists — she’s worked on TestBoston, a study of COVID-19 infection rates in Massachusetts, and Count Me In, which connects cancer patients with researchers to reveal patterns in data. "I really like the [projects] where I know for sure that what I'm doing might actually help people,” she said. “I take pride in that." In this #WhyIScience Q&A, Westbrooks talks about her path to computer science.
Researchers at the Broad Institute have developed twin prime editing (twinPE), a new version of prime editing that can install or swap out gene-sized DNA sequences. “Inserting a healthy gene in a patient at a site of our choosing without generating double-strand breaks and mixtures of byproducts has been one of the longstanding challenges in gene editing,” said David R. Liu, who is the study's senior author. “TwinPE could be a potentially safer and more precise way to insert whole genes of therapeutic interest into positions we specify.”
