A genome-scale CRISPR-Cas9 screen in a mouse model of non-small cell lung cancer reveals genes involved in tumor evolution and metastasis. The study highlights well-known tumor suppressor genes and identifies several microRNAs that promote tumor growth.
A longitudinal study found that infants who developed type 1 diabetes had a significant drop in microbial diversity prior to disease onset, including a decrease in health-promoting bacteria and an increase in potentially harmful ones. The study also revealed stable biological functions served by the microbiome across individuals.
Researchers identified rare APOA5 gene mutations linked to high triglycerides and increased heart attack risk. The study found that these mutations also raise LDL receptor mutation prevalence, underscoring the role of triglyceride metabolism in early-onset heart attacks.
Two studies found a subset of somatic mutations in DNA samples from healthy individuals that significantly increase the risk of developing blood cancers. The 'pre-malignant' state becomes more common with age and can be detected by sequencing DNA from blood.
A team from the Broad Institute, UC Berkeley, and UC Santa Cruz was awarded a NCI Cancer Genomics Cloud Pilot contract to build a system enabling large-scale analysis of The Cancer Genome Atlas (TCGA) datasets. The project aims to democratize access to computational tools and facilitate collaboration across the cancer genomics community.
Scientists engineered a mouse model equipped with the CRISPR-Cas9 system to study disease mechanisms and inform drug discovery. The model allows researchers to easily perturb multiple genes in vivo, enabling rapid screening of gene functions implicated in diseases.
Researchers sequenced five African cichlid fish genomes to understand the molecular basis of adaptation in vertebrates. They found a variety of genomic changes that enabled the fishes to thrive in new habitats and ecological niches.
Researchers sequenced over 99 Ebola virus genomes from 78 patients in Sierra Leone, finding more than 300 genetic changes that make the 2014 Ebola virus distinct from previous outbreaks. The data provides insights into the outbreak's origin, transmission, and potential targets for diagnostics, vaccines, and therapies.
Researchers identified 83 gene-deactivating variants that were more prevalent in Finns and found a link between these mutations and lower Lipoprotein(a) levels. The study suggests a
Researchers discovered four rare APOC3 gene mutations that lower blood triglyceride levels and reduce the risk of coronary artery disease by 40%. The study suggests a powerful strategy for developing new drugs against heart disease.
The study reveals that each glioblastoma tumor contains individual cells from multiple cancer sub-types, and that the distribution of these cells varies from tumor to tumor. This heterogeneity may contribute to drug resistance and disease recurrence, highlighting the need for personalized treatment approaches.
Researchers identified a strong genetic risk factor for type 2 diabetes that primarily affects Latin American patients, with potential implications for tailored treatments. The study's findings suggest that patients carrying this variant may benefit from drugs effective in treating MODY, a rare form of diabetes.
An international team has identified genetic mutations that reduce the risk of type 2 diabetes by 65% in people with risk factors. These mutations may lead to the development of a new therapeutic strategy for preventing and treating the disease.
Researchers have revealed the structure of the Cas9 complex, a key part of the CRISPR-Cas system used for genome editing. The study provides a detailed picture of the complex, enabling researchers to refine and engineer the tool to accelerate genomic research and bring it closer to treating human genetic disease.
A landmark study across many cancer types reveals that the universe of cancer mutations is much bigger than previously thought. The team's work expands the list of known genes tied to these cancers by 25 percent.
Two studies analyzed exomes of people with schizophrenia and healthy individuals, identifying patterns that suggest the disorder arises from combined effects of many genes. Genetic alterations tend to cluster in networks related to synaptic function, including calcium ion channels and cytoskeletal proteins.
A comprehensive genetic study of multiple myeloma has identified subpopulations of cancer cells with different mutations within the same tumor. This discovery could impact treatment strategies and patient outcomes.
A comprehensive genomic analysis of cervical cancer identified recurrent genetic mutations, including one targeted by existing treatments for other cancers. The study also shed light on the role of human papillomavirus (HPV) in cervical cancer development.
Researchers have identified a new genetic risk factor for type 2 diabetes, found to be more common in Latin Americans than other populations. The variant, SLC16A11, is associated with a 25% increased risk of diabetes and is linked to Neanderthal ancestry.
The Broad Institute's Cancer Therapeutics Response Portal (CTRP) has launched to match patients with potentially effective drugs. Researchers can use the portal to find therapeutically exploitable vulnerabilities in different cancer types, identifying genes that may provide new therapeutic targets.
The coelacanth genome confirms genes evolve more slowly than in other organisms, suggesting a specialized environment has led to minimal change. The study also sheds light on the water-to-land transition, identifying key genetic regions associated with tetrapod innovations and immune system adaptations.
Researchers have made a surprising connection between autoimmunity and salt consumption, highlighting the interplay of genetics and environmental factors. The study's findings could lead to new ways to regulate T helper 17 cells and their function in autoimmune diseases.
A new study identifies 71 additional genetic associations for IBD, many linked to immune-related disorders. Researchers found a strong overlap between IBD susceptibility genes and genes responding to mycobacterial infections.
Researchers have identified several potential therapeutic targets for squamous cell lung cancer, including alterations in the TP53 and CDKN2A genes. These genetic changes may be susceptible to drug inhibition, providing new opportunities for clinical trials and potentially transforming treatment outcomes.
Researchers catalogued thousands of non-coding genome switches that subtly turn up or down gene activity and influence cell-type specific utilization. These maps revealed regions active in immune cells for autoimmune diseases and liver cells for metabolic disorders.
New research suggests that normal cells within the tumor, part of the tumor microenvironment, may supply factors that help cancer cells grow and survive despite anti-cancer drugs. The study found that hepatocyte growth factor (HGF) is linked to BRAF inhibitor drug resistance in melanoma.
Researchers uncovered surprises in genes previously thought uninvolved in breast cancer, revealing the complex drivers of this leading cause of cancer death. The study found novel fusion gene MAGI1-AKT3, which acts as an oncogene and offers new therapy targets.
The Human Microbiome Project identified a diverse and abundant microbiota in healthy humans, with varying composition across body sites and individuals. Ethnic/racial background was found to be the strongest association for diversity in the Western human microbiome.
Researchers have developed a technique to measure the flux of metabolites in cancer cells, revealing a link between glycine consumption and fast cell division. The study's findings suggest that glycine metabolism plays a crucial role in cancer cell proliferation, with implications for understanding cancer biology.
A new study of 15 HDL-raising variants found no association with reduced heart attack risk, challenging the long-held assumption. The research uses genetic approaches to test biological hypotheses and highlights the value of human genetic information in understanding disease biology.
A team of scientists has sequenced the whole genomes of 25 metastatic melanoma tumors, confirming the role of chronic sun exposure and revealing new genetic changes. The study identified a gene called PREX2, which is mutated in 44% of patients and appears to accelerate tumor development.
Researchers have announced GenomeSpace, a software environment that brings together a wide range of genomic analysis tools and data sources. The platform enables seamless transitions between tools, allowing biologists to carry out projects from start to finish without manual conversions or programming skills.
The Merkin Family Foundation will fund promising Broad Institute scientists as Merkin Institute Fellows, supporting bold research in areas like stem cell biology and regenerative medicine. The program aims to create a pipeline of talented researchers advancing science and medicine at the Broad Institute.
Researchers have developed compounds that repress MCL1's activity and highlighted a companion gene that predicts tumor dependence on the gene. These tools suggest a path toward new therapeutics directed at MCL1, potentially effective in treating tumors where both genes are highly expressed.
Researchers identified 147 genetic regions in sticklebacks that enable adaptation to marine and freshwater environments. Regulatory changes predominate, with most differences occurring in non-coding regions of the genome.
A DNA sequencing consortium has identified patterns of mutations in autism, highlighting hundreds of genes and pinpointing two specific genes as strong risk factors. The study found that de novo point mutations play a role in the development of autism, with some genes more connected to each other than expected.
The Cancer Cell Line Encyclopedia offers a comprehensive resource for cancer research, integrating gene expression, chromosomal copy number, and pharmacological profiles. This will enable researchers to predict drug sensitivity and improve the success rate of drug development in personalized medicine.
The Broad Institute has received a $32.5 million grant to launch the Klarman Cell Observatory, which will decipher how biological decisions are made in health and disease. The Observatory aims to shed light on the inner workings of cells, leading to major treatment breakthroughs.
A study by the Broad Institute and University of California, Berkeley, has linked a person's immune status to the viral genetics of dengue, revealing how these two factors interact to cause severe disease. The research showed that immunity from previous infections and genetic variants of the virus combined to increase disease severity.
Researchers developed a tool called MINE that can detect multiple patterns in large data sets, including health information, baseball statistics, and bacterial landscapes. The tool identifies relationships in a way that no other software program can, offering tremendous exploratory potential.
Researchers identified 3 million previously undetectable elements in non-coding regions of mammalian genomes that have been preserved across millions of years, associated with human disease. This catalog makes it easier to decipher the function of disease-related variation in the human genome.
The green anole lizard's genome has been fully sequenced, offering clues about vertebrate evolution and the origins of human genes. The study also provides insights into how lizards adapted to different islands and evolved diverse communities.
Scientists discover large RNAs regulate embryonic development by physically interacting with proteins, suggesting a critical role in developmental decisions. The study reveals that lincRNAs may play similar roles in most cells and could be engineered to target key genes in disease.
Researchers at the Broad Institute and Whitehead Institute found that cancer cells can interconvert between different types, existing in phenotypic 'states' that can change over time. This decentralized model challenges the traditional view of cancer stem cells as a hierarchical society.
Researchers have identified unexpected genetic mutations in head and neck squamous cell cancer, including defects in the p53 tumor suppressor gene and alterations in the NOTCH family of genes. These findings shed new light on the complex biology of this understudied disease.
Scientists discovered a novel compound, piperlongumine, that selectively targets cancer cells' response to oxidative stress, inducing cell death without harming normal cells. The compound's effectiveness surpassed that of a commonly used chemotherapy drug, paclitaxel.
Researchers from the Broad Institute and Harvard identified genes essential for ovarian tumor growth, including PAX8, which is altered in nearly one-fifth of surveyed tumors. The study's findings have implications for cancer research, suggesting that classification based on genetic mutations may be more revealing than tissue origin.
The Broad Institute of MIT and Harvard has received a $50 million gift from the Stanley Medical Research Institute to extend funding for its Stanley Center for Psychiatric Research. Researchers will continue to unravel the genetic mysteries of psychiatric illnesses, aiming to develop new treatments for patients.
Researchers at the Broad Institute have developed a method to measure how much messenger RNA is produced and degraded, revealing dynamic changes in RNA levels over time. The technique allows for high-resolution and comprehensive views of the RNA lifecycle, enabling scientists to investigate what happens when something goes wrong in cells.
A study of nearly 40 tumor genomes has yielded new and unexpected insights into the events that lead to multiple myeloma, a form of blood cancer. The researchers discovered genes never before associated with cancer, as well as genetic mutations disrupting common pathways that trigger cell change.