Research on the human genome and what it shapes. Covers AI genomics, molecular aging, biodesign, and gene-environment effects.
The Novo Nordisk Foundation has renewed its $53 million commitment to the Broad Institute's Center for Genomic Mechanisms of Disease. This funding will accelerate research into the genetic and biological mechanisms underlying type 2 diabetes and obesity, with the goal of identifying new therapeutic targets. The center will expand on it...
A study found that a common lupus-associated genetic variant strengthens antiviral immune responses while increasing the risk of autoimmunity. This genetic variant affects the IRF7 transcription factor, which plays a central role in the antiviral immune response.
Researchers found that chemotherapy drugs like cisplatin and carboplatin can leave characteristic mutations in healthy liver tissue of children, potentially increasing the risk of future cancers. The study used advanced sequencing technology to detect mutations in non-cancerous tissues from pediatric cancer patients.
Researchers have identified two new genes associated with primary ciliary dyskinesia (PCD), a rare disease affecting respiratory and other systems. The discovery provides a new diagnostic tool and potential targets for treatment, improving understanding of cilia function and disease progression.
Researchers have developed the AlphaGenome Atlas, a comprehensive map of more than 9 billion possible single-letter DNA changes. The one-petabyte dataset provides artificial intelligence-generated predictions for the molecular effects of these changes, accelerating understanding of the human genome.
The AI BioDesign accelerator will generate open models, datasets, and tools to create new biological solutions for human health and environmental challenges. The goal is to learn and model the rules biology uses to build life, enabling the development of new drugs, enzymes, and biological computers.
An eight-year study of 335 women reveals individual molecular trajectories of aging diverge from population-wide patterns, influenced by genetics and environmental exposures. The study found over 5,000 genes and 181 metabolites changed over time, including those associated with age-related diseases.
Researchers found that meal timing programs the liver's daily rhythms and can have serious metabolic and health consequences when out of sync. The liver uses food signals to activate metabolic pathways, which can conflict with the body's natural circadian clock, leading to health issues.
Consuelo Walss-Bass's family was affected by schizophrenia, yet her sister was spared. Her laboratory addresses the genetic gap by exploring signaling alterations in neurons derived from affected sibling pairs, identifying convergent abnormalities in PI3K/GSK3 signaling.
A new research tool, PGS-TRI, analyzes family data to understand how genetics and environment contribute to autism risk. The tool provides a more precise look at how 'nature' and 'nurture' interact within families, allowing researchers to better understand the complex factors that shape a child's health.
Researchers from USC-led study found that different epigenetic clocks capture distinct aspects of cellular aging, while introducing new gene-expression based clocks with stronger predictive power. These tools can better predict age-related disease and mortality by examining DNA methylation patterns and gene expression.
A new review highlights how molecular biology advances are reframing PAH as a complex vascular remodeling disease driven by endothelial dysfunction, chronic inflammation, metabolic dysregulation, and genetic susceptibility. Emerging therapies target the BMP/TGF-β pathway, growth factor signaling, and inflammatory pathways.
Ancient human genomes showed differing functional PSPH gene variants, with modern-day phosphoserine phosphatase having the greatest function. The study highlights potential in combining evolution-guided variant prioritization for uncovering functional differences.
Researchers developed a new method to study long-distance DNA regulation in rare immune cells, uncovering previously hidden connections relevant to autoimmune diseases. The approach prioritized over 100 candidate genes linked to Crohn's disease risk, including CLN3, which was not typically associated with the condition.
A study at USC discovers a common genetic variant in Indigenous American populations that silences the microprotein MENTSH, restoring it improves insulin signaling and blocks diet-induced weight gain. MENTSH-based therapies could offer a precision-medicine approach to Type 2 diabetes.
A new computational approach, TRACE, reveals a more complex picture of human evolution by detecting ancient hominin ancestry in modern humans. The approach recovers known Neanderthal and Denisovan ancestry while uncovering previously unknown episodes of interbreeding with archaic human groups.
A Mount Sinai study found that single-cell atlases, used for mapping the human body and training AI models, may not accurately represent global populations. The analysis of over 13,500 samples revealed an overrepresentation of European ancestry and underrepresentation of Asian and Latino individuals, highlighting the need for diverse a...
Researchers have identified a widespread source of error in a popular genome study method and created a machine-learning tool to correct it. PATTY uses machine learning to reduce artifacts while preserving real signals in noisy data, giving researchers a clearer view of gene activity control.
A new atlas has been developed to map the potential of genes in predicting adverse drug reactions, utilizing a comprehensive analysis of genetic data from the Million Veteran Program. This genomic-led strategy aims to anticipate drug safety effects by identifying key genetic variants associated with adverse reactions.
Researchers developed an advanced generative model called ALADYNOULLI to uncover underlying disease processes and predict individual outcomes. The model reduced complex patient histories into 21 reproducible 'latent' disease signatures, which were highly similar across datasets and reproduced known disease processes.
A new study from MUSC suggests that combining flexible testing options and community partnerships can bring populationwide genomic screening to rural and socially vulnerable communities. Over 50,000 adults have completed screening through In Our DNA SC, a program that has reached participants in all 46 South Carolina counties.
A recent study published in Obesity Reviews found that knowledge about genetic risk alone is not sufficient to change behavior and reduce excess weight. Long-term, personalised support is crucial for effective behavioural change.
Research found that Parkinson's disease triggers shared 'stress responses' but also differs between men and women at the cellular level, particularly in how glial cells manage energy and protect nerve connections. This discovery may lead to more personalized treatments for patients.
Researchers discovered how ATRX mutations reprogram gene regulation architecture to fuel glioma growth and progression. Targeting genes downstream of ATRX slowed cancer progression in preclinical models.
Researchers discover that kidney cancer cells lacking the tumor suppressor gene SETD2 become highly dependent on protein BCL-xL for survival. By targeting this dependency, they can selectively eliminate SETD2-deficient cancer cells, offering a potential new therapeutic strategy for patients with aggressive subset of kidney cancers.
Researchers developed a groundbreaking approach to prioritize schizophrenia-associated genes by analyzing genetic data from over 102,000 individuals. This study uncovered 641 previously unrecognized genes associated with schizophrenia, shedding light on the complex interactions between distant genetic variants.
Scientists have identified a unique chimeric RNA called UBA1-CDK16 that plays important roles in women's blood cell development and disease severity. The findings suggest the chimeric RNA may serve as a natural brake to protect women from excessive autoimmune activity.
A team studied 173 multiplex families from the Azores and Madeira islands, finding a single broken gene that travels through three generations and causes different illnesses. The CHD2 mutation is rare and affects schizophrenia, mood disorder, and autism in different family members.
The University of Bath has recruited leading psychiatric geneticist Professor Laura Huckins to lead mental health research, focusing on eating disorders and PTSD. She aims to provide answers and treatments for vulnerable populations, combining genetic data and human brain studies to predict individual responses to their environment.
Researchers at ISTA and Norwegian Institute of Public Health found that environmental factors influenced by parents' genes can significantly impact children's traits like height, body weight, and school performance. The study used genetic and phenotypic data from over 30,000 families to separate direct and indirect genetic effects.
Researchers discover repetitive regions of the human genome, previously considered 'junk DNA', could contribute to cancer development through epigenetic and transcriptional alterations. The study uses advanced sequencing technologies to characterize these regions and their molecular interactions.
A large Japanese study found that maintaining a healthier profile with lower lifestyle and health risks can significantly lower dementia risk in people with one or no APOE ε4 alleles. However, individuals carrying two APOE ε4 alleles may require different preventive or therapeutic approaches.
Researchers create detailed cell map to identify genetic and cellular drivers of IBD, finding that many genetic effects occur in immune cells and epithelial cells. The study demonstrates the power of single-cell sequencing and genetics to unlock disease mysteries.
A new AI tool, HERRO, corrects errors in nanopore sequencing reads to produce high-quality complete genome assemblies. This innovation enables researchers to build more accurate and complete genome maps with a simpler workflow, unlocking potential for precision medicine advancements.
Mount Sinai researchers have uncovered a substantial genetic component to postpartum psychosis, a rare psychiatric illness that occurs after childbirth. The study found rare damaging mutations in the HMGCR gene and significant genetic overlap with bipolar disorder, schizophrenia, and autoimmune diseases.
A new study from the University of Exeter found that genetic testing can identify the cause of pancreatic agenesis in 98 per cent of cases. This diagnosis allows healthcare professionals to provide families with a better understanding of the condition's impacts, risks, and help them find support.
A study published in Nature suggests that individuals at the extremes of certain traits, such as cholesterol and blood glucose, are more likely to have rare genetic variants with larger effects. This discovery may lead to better preventive care and treatments for those with extreme trait values.
Recent advancements in animal models, organoid models, and bioengineered organoids have provided new tools for studying primary sclerosing cholangitis. These models replicate the effects of bile retention and inflammation, enabling studies of disease mechanisms, drug screening, and preclinical evaluation.
A study published in Nature Communications identified over 50 previously unknown genes that affect lipid composition in the human body. These findings may provide a better understanding of aging processes and pathological conditions such as Alzheimer's disease, diabetes, and cardiovascular dysfunctions.
The APOE2 gene variant is associated with exceptional longevity and reduced Alzheimer's risk. Research reveals that APOE2 helps human neurons maintain genomic integrity and resist cellular senescence, driving neurodegeneration. This study offers a mechanistic answer to the protective mechanism behind APOE2's role in aging.
Researchers have developed a new gene editing technology called 'prime assembly' that allows efficient insertion of large DNA segments into the human genome. This innovation enables treatment of genetic diseases by replacing entire genes, promising substantial progress in treating conditions with multiple mutations.
A study published in Chinese Neurosurgical Journal reports KRAS gene overexpression associated with brain arteriovenous malformation (bAVM) pathogenesis. The research found altered gene expression profiles linked to cell adhesion, signaling, and mitochondrial function, suggesting KRAS-driven molecular alterations play a role in bAVM de...
The alliance aims to address the diagnostic gap in rare diseases, leveraging genomics, AI, and technology. BGI Genomics is establishing a national-level rare disease diagnosis center with improved access across Southeast Asia.
Researchers developed RegVelo, an AI framework that models cellular dynamics and gene regulation to predict cellular fate decisions. The model traces developmental trajectories and simulates regulatory interactions, providing insights into hidden drivers of development and potential therapeutic targets.
The APOE2 gene variant is linked to exceptional longevity and reduced Alzheimer's risk, thanks to its ability to help human neurons keep their DNA intact and resist cellular senescence. This study reveals a previously underappreciated function of the gene, shifting attention away from its role in cholesterol transport.
Researchers developed a framework to study the impact of genetic variants on neurodevelopmental disorders. By analyzing induced pluripotent stem cells, they found that genetic background can lead to different clinical outcomes in individuals with the same deletion on chromosome 16.
A new study found that natural selection favored Indigenous Andeans with high numbers of salivary amylase genes, leading to a higher frequency of these genes in the population. This suggests that potatoes played a crucial role in shaping the genetic makeup of this population.
Researchers found that camels have a more flexible and coordinated response to heat stress, allowing them to maintain stability even at higher temperatures. In contrast, human cells tend to respond in a more rigid way, making them less adaptable under heat stress.
Research finds over 3,000 genes with sex-biased transcription in the brain, including genetic variants linked to ADHD, schizophrenia, depression, and Alzheimer’s disease. Sex differences may arise from interplay of biological and social influences.
Researchers developed mosaic mini-brains to study focal cortical dysplasia type II, a condition causing seizures in children. The findings support the two-hit model, suggesting that complete loss of DEPDC5 is necessary and sufficient to initiate the disease, with mosaicism determining lesion extent.
A University of Calgary-led study found that children with genes predisposing to migraine are at higher risk of developing more severe headaches after a concussion. The research identified specific genetic mutations and family history of migraine as associated risks.
A recent study from The Jackson Laboratory has identified dozens of unexpected genes strongly linked to type 2 diabetes. These genes are key to cell death and vitamin A metabolism, suggesting the disease depends on expression changes that can be targeted for treatment.
Scientists have discovered a new rare genetic disease caused by a mutation in the RPN1 gene, which affects glycosylation and leads to protein instability. The disease, now termed RPN1-CDG, is characterized by neurodevelopmental issues and has expanded the number of genes associated with OST complex diseases.
A new University of Michigan-led research has identified a connection between keratin 16 and type 1 interferon in the molecular pathways of pachyonychia congenita. The study found that losing or altering K16 causes amplification of the inflammatory response, but also helps pump the brakes on that response.
Researchers uncover distinct patterns of Indigenous and European ancestry in urban Peruvian population, challenging common categorizations. The study's findings hold significant implications for precision medicine and health disparities among Latin Americans.
A new international study by Adelaide University researchers found that genetics influence how lifestyle-behavioural factors impact ageing. Healthier ageing is associated with greater physical activity, better diet, and higher educational attainment, while smoking and suboptimal sleep duration have negative effects.
A new tool, metapipeline-DNA, automates and standardizes genome sequencing analysis, reducing the complexity of large and complicated data. The open-access resource, developed by Sanford Burnham Prebys and the University of California Los Angeles, aims to improve collaboration and reproducibility across research labs.
A new clinical trial will investigate whether adding the oral medication vorasidenib to standard chemotherapy improves progression-free survival for people with newly-diagnosed, grade 3 IDH-mutant astrocytoma. The study aims to recruit 400 individuals with this type of brain cancer and evaluate the safety and side-effect profile of the...
Recent discoveries have shed light on gene expression control in tumor growth, revealing the critical role of epigenetic marks and genomic imprinting. The findings have significant implications for cancer treatment, as they suggest that disrupting the tumor's access to neural signaling may halt its growth.
A mini-review synthesizes large-scale genomic findings to illuminate the polygenic architecture underlying common epilepsies. Rare genetic variants contribute to epilepsy risk, with shared biological pathways involving ion channel function and synaptic excitability