A team at Broad Institute of MIT and Harvard developed a new molecular editor that can precisely edit mitochondrial DNA, enabling modeling of disease-associated mutations. The editor, engineered from a bacterial toxin, enables researchers to study genetic changes associated with cancer, aging, and more.
The gnomAD Consortium has published its first major studies of human genetic variation, revealing new insights into rare types of genetic variation. The research provides better tools for clinical geneticists to diagnose patients with rare genetic diseases and evaluate proposed drug targets.
Analyzing viral genomes from an outbreak can show how a virus is evolving and being transmitted. The study revealed new links between cases that first appeared unrelated and details about how the disease was spreading in Massachusetts and elsewhere in the US.
Researchers analyzed genomes of nearly 50 tumor samples from angiosarcoma patients and found dozens of mutated genes, including new clues about therapeutic possibilities for some subtypes. The study suggests that drugs approved for other types of cancer might be useful in treating angiosarcoma.
A study by the Broad Institute of MIT and Harvard uncovered nearly 50 non-oncology drugs that can kill cancer cells, including those for diabetes, inflammation, and arthritis. The researchers identified novel drug mechanisms and targets, suggesting a possible way to accelerate the development of new cancer drugs.
A new CRISPR approach called prime editing has been developed by combining two key proteins and a new RNA to make targeted insertions, deletions, and single-letter changes in human cells. The system expands the scope of gene editing with up to 89% precision and potential correction of disease-causing genetic variations.
Researchers at Broad Institute of MIT and Harvard have created a single system that can diagnose and treat viral infections using Cas13, a CRISPR RNA-cutting enzyme. The system, called CARVER, reduces viral RNA levels by up to 40-fold in human cells.
A clinical study comparing liquid and tissue biopsies finds multiple resistance mechanisms in individual patients, which could explain why targeted therapies often fail. The results suggest possible molecular mechanisms underlying drug resistance, pointing the way to new and more personalized therapeutics.
A novel molecular mechanism has been discovered that underlies several genetic disorders, including MUC1 kidney disease, which results in a 'traffic jam' at the cellular shipping network. Researchers identified a compound called BRD4780 that can clear this traffic jam and prevent protein misfolding.
Researchers developed DNA microscopy, a technique that maps cells by encoding spatial information using chemical reactions. This approach enables the visualization of biomolecules such as DNA and RNA in their native environments, revealing complex interactions between cells.
A new approach detects mutations across many different types of normal cells by analyzing RNA sequencing data from normal tissues. The study found that 95% of individuals had at least one tissue with mutations, with higher rates in lung, esophagus, and sun-exposed skin.
The SYNGO Consortium has released a public data resource that provides a standardized framework for describing synaptic functions. The knowledge base includes nearly 3,000 descriptions of more than 1,100 unique synaptic genes, compiled from published experimental information.
A large international consortium analyzed protein-coding genes from nearly 46,000 people, linking rare DNA alterations to type 2 diabetes. The study identified four genes with rare variants that affect diabetes risk, providing potential targets for new medicines and guiding researchers to better understand the disease.
Cancer cells dependent on WRN enzyme to survive due to DNA repair system loss; MSI signature identified as effective biomarker for vulnerable tumors.
Polygenic scores developed using European data are more accurate for people of European ancestry than those of African or East Asian ancestry. Researchers recommend increasing minority population representation and making data accessible to improve healthcare outcomes.
The Slide-seq technique generates detailed three-dimensional maps of tissues, revealing the location and activity of cell types and genes. This platform offers unparalleled views of tissue function, allowing researchers to study cellular relationships, gene expression, and responses to perturbations.
A new computational method called CATCH enables scientists to design molecular probes that can capture genetic material of various microbes, including viruses. This approach has been successfully tested in detecting low-abundance viruses like Zika, improving the detection of viral content in clinical samples.
A nationwide research team has discovered a strong relationship between early-onset atrial fibrillation and mutations in the TTN gene, which helps maintain heart muscle structure. Roughly two percent of patients with early-onset Afib had a loss-of-function mutation in TTN, increasing their likelihood of diagnosis at younger ages.
A machine-learning algorithm, inDelphi, predicts the precise correction of broken genes by analyzing data from CRISPR-induced breaks. Researchers successfully corrected nearly 200 disease-associated genetic variants, restoring gene function to healthy states.
A new genomic study reveals five distinct groups of DNA sites driving unique forms of type 2 diabetes, with potential implications for personalized treatment approaches. The research identifies subtypes based on genetics and physiology, which could help physicians tailor interventions to individual patients.
A new genome analysis method predicts risk for coronary artery disease, breast cancer, and type 2 diabetes based on genetic variants. Up to 25 million people in the US may be at triple the normal risk for coronary artery disease, highlighting the potential for early interventions.
Researchers identified a rare pulmonary ionocyte cell type in airway tissue, playing a key role in cystic fibrosis. The new cell subtype expresses CFTR at high levels, challenging previous assumptions about airway function.
A new study found that psychiatric disorders such as schizophrenia and bipolar disorder have similar genetic patterns, which may not be reflected in current diagnostic categories. The research suggests that a single mechanism regulating concentration could drive both ADHD and schizophrenia.
Researchers at Broad Institute of MIT and Harvard have developed a new tool that enables clinicians to quickly diagnose patient samples and track epidemics using CRISPR-based SHERLOCK. The platform can detect viruses directly in bodily fluids, eliminating the need for lab equipment and trained personnel.
The study provides a comprehensive genomic portrait of elephants, including extinct mammoths and mastodons. Gene flow between species was more common than previously thought, contradicting simple tree-like relationships.
Researchers have developed a CRISPR-based diagnostic tool called SHERLOCK, which has been enhanced to detect multiple targets at once and show results on a paper strip. The new feature increases sensitivity 100-fold, allowing for the detection of low concentrations of genetic material in samples.
A team of researchers from the Broad Institute of MIT and Harvard has developed a new compound that can protect kidney cells from death and restore kidney function in multiple animal models of progressive kidney disease. The compound, called AC1903, works by blocking a damaging feedback loop involving the protein TRPC5.
African populations show a higher degree of genetic complexity in skin pigmentation as latitude decreases, with an increasing number of unknown genes contributing to variation. The study found that stabilizing selection takes over at lower latitudes, leading to more diverse skin colors.
A recent study found that antibiotics like ciprofloxacin can directly alter the biochemical environment of mouse immune cells during infection, making it harder for them to kill bacteria. This change in environment also led to increased resistance to antibiotics in E. coli bacteria.
The new Connectivity Map includes over 1.3 million gene expression profiles from multiple cell lines treated with chemical or genetic perturbations, enabling the study of small molecule and gene function. This expanded resource accelerates drug discovery efforts by predicting how small molecules work and discovering compounds with spec...
A team of researchers at the Broad Institute has created a high-resolution census of the small intestine's cellular composition, revealing new insights into gut biology and its connection to diseases such as inflammatory bowel disease and food allergies. The atlas uses single-cell RNA sequencing and provides a reference for studying th...
Researchers have developed an accurate approach for monitoring cancer DNA from blood samples, validating the use of blood samples for studying patients' cancer genomes. Nearly 90 percent of a tumor's genetic features can be detected in blood samples using whole-exome sequencing.
Researchers developed a CRISPR-based system, called REPAIR, which can edit single RNA letters in human cells. This new system has potential to treat diseases without permanently affecting the genome.
Researchers have created a new genome editing tool that can directly repair common DNA point mutations. The 'base editor' works by converting adenine to guanine without cutting the double helix, with high efficiency and minimal byproducts.
Researchers developed a customizable mouse model of leukemia using multiplex CRISPR-Cas9 editing and human hematopoietic stem cells. The models accurately reflect human responses to therapeutic agents commonly used to treat blood cancers. This breakthrough may aid drug discovery and clinical trials.
Researchers developed DroNc-Seq, a method merging sNuc-Seq with microfluidics for parallel measurement of gene expression in complex tissues. The technique enables identification of unique expression signatures for cell types, including rare ones, and differentiation between closely related subtypes.
A study has identified a genetic signature linked to defects in the DNA damage repair-genes BRCA1 and BRCA2 in breast cancer. The researchers found that this signature is not exclusive to BRCA mutations but also indicates other ways of deactivating the DNA repair mechanism, offering new insights into breast cancer treatment decisions.
The study identified over 760 genes that cancer cells from multiple types strongly depend on for growth and survival. Many of these dependencies are specific to certain cancer types, while about 10% are common across multiple cancers, suggesting new therapeutic targets.
Researchers analyzed 174 Zika virus genomes from patient and mosquito samples to reconstruct the virus's spread across South and Central America. The study suggests that Zika was circulating in Brazil around February 2014, months before local cases were detected.
Researchers have developed a highly sensitive diagnostic tool using RNA-targeting CRISPR enzyme for detecting diseases such as Zika virus and antibiotic-resistant bacteria. The new system, called SHERLOCK, can detect single molecules of target RNA or DNA, enabling rapid and affordable diagnosis.
Researchers developed a tool to untangle which genetic variants actually create risk for heart disease, diabetes, and other diseases. The 'massively parallel reporter assay' technique lets scientists probe thousands of DNA variations to identify ones that affect gene regulation.
Researchers have characterized a new CRISPR system that targets RNA, enabling temporary changes to be made with greater specificity. This approach has the potential to accelerate progress in understanding, treating, and preventing disease by manipulating gene function more broadly.
Researchers developed a new method called PRISM to test potential drug compounds on cancer and other cell lines simultaneously, allowing for pooling and testing of multiple cell lines. This approach promises to accelerate the search for targeted therapies by better representing the broad genetic diversity of disease.
A landmark genetic study found that a person's risk of schizophrenia is increased if they inherit specific variants in the complement component 4 (C4) gene, which plays a role in synaptic pruning. This discovery helps explain decades-old observations and may lead to future therapeutic strategies targeting the disorder's roots.
Researchers discovered a novel pathway to cancer that involves the misfolding of the genome and IDH mutations. This disruption allows a potent growth factor gene to be activated by an always-on gene switch, leading to cancer growth.
Researchers at Broad Institute of MIT and Harvard have engineered changes to the CRISPR-Cas9 system, significantly cutting down on 'off-target' editing errors. The newly-engineered enzyme, eSpCas9, will be useful for genome editing applications requiring high specificity.
A genomic study has uncovered key biological insights into the protective effects of the RTS,S/AS01 malaria vaccine candidate. The research found that genetic variation in the protein targeted by RTS,S influences its ability to ward off malaria in young children, with allele-specificity playing a crucial role in vaccine protection.
A new CRISPR-Cpf1 system offers a simpler approach to genome engineering with precise DNA cutting capabilities. The system, discovered by Feng Zhang and his colleagues, has potential to advance genetic engineering and cancer research.
The MIT, Broad Institute Foundry aims to revolutionize genetic engineering by enabling the rapid design, testing, and fabrication of large sequences of genetic information. The facility collaborates with academic and industrial partners to develop innovative pipeline tools for efficient and precise DNA design.
A Broad Institute-MIT team has identified a highly efficient new Cas9 nuclease that overcomes the primary challenge to in vivo genome editing, expanding therapeutic and experimental applications of CRISPR. The new tool is expected to improve scientists' ability to screen for gene mutations and understand gene function using animal models.