Articles tagged with Human Genetics
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
Salk Institute researchers identified Med14, a protein connected to GLP-1 drug effects on pancreatic beta cells, leading to improved viability, insulin production, and stress resistance. The study suggests a potential molecular link between GLP-1 drugs and broader benefits, including type 2 diabetes susceptibility genes.
A massive Swedish study of over 2 million individuals reveals that genetic risk for mental illness is far less disorder-specific than clinicians have assumed. Schizophrenia shows the highest genetic specificity, while drug use disorder has a much lower specificity, scattering its genetic risk across multiple conditions.
A new interdisciplinary study provides detailed insights into the lives of people living in Central Europe during the Late Bronze Age, revealing gradual changes in ancestry, dietary flexibility, and mortuary practices. The research suggests that communities participated in wider networks of interaction and incorporated change into exis...
Researchers identified specific genetic variations contributing to blood pressure, cholesterol, blood sugar, and other complex human traits. By rapidly testing hundreds of thousands of DNA sequences, they created high-resolution maps of DNA variant activity, revealing new insights into disease risk prediction and therapy development.
The Long Life Family Study, a long-running international investigation, has revealed insights into features of healthy aging. Researchers have found that most long-lived families have better cardiovascular health, including healthier blood pressures and lower rates of diabetes.
A new Immunology Center will accelerate discoveries in muscle immunology and immune responses to gene therapies. Klaudia Kuranda brings expertise in immunology, onco-immunology, and leadership experience to the center.
Researchers have developed an artificial DNA base pair that relies on halogen bonds, enabling stable structures and recognizing naturally occurring enzymes. This breakthrough expands the genetic alphabet and could open up new possibilities in synthetic biology.
A study found that age, biological sex, and human genetic factors determine the quantity and specificity of antibodies produced in response to viral infections. The research has significant implications for vaccine and therapeutic design, as it shows that individual profiles can be tailored to improve treatment effectiveness.
Researchers from ISTA developed an algorithm that can extract and analyze information from the world’s most extensive biobank with unprecedented accuracy and speed. The method, dubbed gVAMP, enhances the framework's ability to extract complex information from the dataset at hand, providing a detailed overview of the effects on a trait ...
In a new study, researchers at Uppsala University clarified family relationships in four graves from a 5,500-year-old hunter-gatherer culture at Ajvide on Gotland. DNA analyses suggest that the people were well aware of family lineages and that relationships beyond the immediate family played an important role. The analysis showed that...
A zebrafish model was used to test the functional significance of rare SMN1 variants in children with false positive SMA diagnoses. The research found that both variants were functional and did not cause the disease. This breakthrough could prevent unnecessary SMA therapies and provide families with security.
A massive genome-wide association study identified 58 genetic variants associated with increased anxiety risk, pointing to 66 genes involved in stress response. The study also found strong genetic overlap with depression, neuroticism, and PTSD, underscoring the shared biology behind emotional distress.
Chronic alcohol consumption alters endocannabinoid gene expression in reward- and decision-related brain regions, offering insights into addiction biology. This study reveals changes in CB1 and CB2 receptor genes, as well as GPR55 and FAAH enzymes, potentially leading to targeted therapeutic strategies.
Researchers developed polygenic risk score models to predict breast cancer risk in women of African ancestry, improving accuracy and performance compared to existing models. The new tools could lead to earlier screening, tailored care, and increased survival rates for high-risk women.
A Goethe University-led study reveals how mutations in the SPRTN enzyme cause chronic inflammation and premature ageing. The research team found that damaged DNA in the cell nucleus leaks into the cytoplasm, activating defense mechanisms and leading to chronic inflammation.
A study analyzing twin cohort data found that genetics may explain ~50% of human lifespan, with a significant increase to approximately 55% when external mortality is accounted for. This estimate aligns with the heritability of other complex physiological traits and species life-span studies.
Researchers found a strong link between human genetic factors and the oral microbiome, with specific genes influencing cavity and tooth loss risk. The study analyzed over 12,500 individuals' saliva-derived DNA, revealing genome-to-genome interactions between human and bacterial DNA.
Researchers created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development. They found that despite initial differences, these mutations increasingly impact overlapping molecular pathways as development progresses.
Researchers at Salk Institute debut an epigenetic catalog that shows genetic inheritance and life experiences have distinct effects on various types of immune cells, shedding light on individual differences in immune responses and potential new personalized therapeutics.
A research team at Goethe University Frankfurt has compiled a catalog of human E3 ligases and mapped their relationships, revealing family-specific functions. The study identifies 40 additional E3 ligases suitable for PROTAC development, expanding the range of tissues and diseases targeted by degradation therapies.
Researchers identified changes in RNA molecules involved in cell's splicing machinery, causing retinitis pigmentosa in ~30-40% of patients with genetic disorder. Variants in five non-coding RNA genes were found to be responsible for the disease, offering a new diagnostic pathway for families worldwide.
The study created a critical framework for understanding the architecture of the genome and its association with gene function in cells. The 4DN Consortium integrated data from over a dozen techniques to compile an extensive catalogue of looping interactions between genes and regulatory elements.
A comprehensive genetic investigation by Dr. Feng Liu and collaborators identifies shared genetic loci between schizophrenia and osteoporosis, suggesting overlapping biological pathways. The study found that psychiatric patients face elevated fracture risks due to these molecular connections.
A newly identified genetic variant has been found to reduce the risk of leukemia by slowing the growth of mutated blood stem cells. The variant, rs17834140-T, weakens the activity of a key gene in stem cell maintenance, leading to suppressed competitive growth of mutant stem cells.
Professor Dan Stein was a visionary who bridged neuroscience, clinical care, and philosophy to transform psychiatric research in Africa. His integrative approach produced scholarship of extraordinary range, with over 1,600 peer-reviewed publications and a Google Scholar h-index exceeding 220.
A new study reveals significant gaps in genetic evaluation and testing for Black and low-income patients, despite higher rates of testing after receiving results. Researchers call for expanded workforce training, diversification, and policy changes to build equitable systems.
A new strategy for studying Hirschsprung disease in mice has revealed the interactions between multiple genes that control the condition. Researchers found that combining weaker mutations in genes RET and EDNRB creates a more realistic model of the disease, with key similarities to human HSCR.
BGI Genomics convened its 2025 European Partnership & Networking Summit in Budapest, fostering innovation, collaboration, and growth. The event introduced its comprehensive NGS solution, Gensiro, integrating AI and automation to streamline laboratory workflows.
A new study identifies genetic variants influencing both addiction risk and lower educational attainment. The researchers found a subset of genetic variants linked to substance use disorders and poorer health outcomes.
Researchers have developed the Joint Open Genome and Omics Platform 1.0 (JoGo 1.0), which organizes human gene types into four levels based on global frequency. The database catalogs 19,194 human genes with a novel naming system, enabling secure integration of sensitive datasets and linking each gene type to public resources.
A new study developed a powerful computational method, FAME, to detect and quantify genetic interactions. The researchers found 16 instances of interactions on traits such as cholesterol and liver enzymes, which were larger than the effects identified by examining individual variants alone.
A new study suggests that genetic differences passed down from ancient human ancestors and exposure to common chemicals could explain why some women are more likely to develop endometriosis. Researchers identified six genetic variants linked to the condition, which also occur in genes sensitive to modern pollutants.
A new study reveals that Homo sapiens evolved in southern Africa for at least 200,000 years, contradicting previous theories. The analysis of 28 ancient genomes found genetic adaptations that shaped the species and unique variants linked to kidney functions and cognitive evolution.
A new method developed by Penn State researchers improves the analysis of genetic data, identifying more genes associated with neurodegenerative diseases like Alzheimer's and ALS. The technique, BASIC, integrates both bulk tissue samples and single-cell data to uncover shared genetic effects across different cell types.
Researchers identified 12 genes linked to canine behaviour also associated with human traits like anxiety, depression, and intelligence. The study provides insights into understanding dog emotional worlds and tailoring training or care to suit their needs.
A new genetic study found that people without prior suicidal thoughts or behaviors have fewer psychiatric diagnoses and genetic risk factors for psychiatric conditions compared to those with known suicidality. This suggests that conventional wisdom on how to reduce suicide may need to be rethought.
The update provides the most detailed look at African ancestry on the market, helping individuals with African heritage bypass historical 'brick walls'. With over 250 high-resolution genetic groups across Africa, members can now explore their West African ancestry and connect with specific groups in Nigeria, for example.
Researchers have discovered that optical genome mapping can reveal hidden causes of pregnancy loss, including chromosomal changes in genes known to be linked to recurrent pregnancy loss. The study found structural changes in the genome that were missed by traditional genetic sequencing methods.
Researchers used human-induced pluripotent stem cell-derived kidney organoids to model nephronophthisis, revealing the Hippo signaling pathway's role in fibrosis. Inhibiting this pathway with drugs like verteporfin shows promise as a treatment option.
A landmark study has used genome sequencing to quantify how much trait differences between people can be explained by genetic factors. The research found that genetic factors can explain an average of 30% of differences between people for characteristics such as height, body mass index, and cholesterol levels.
Researchers successfully identified the skeletal remains of Duke Béla, a member of the Árpád and Rurik dynasties, using a combination of genetic and dental analyses. The study reveals that Béla was attacked by multiple individuals, consuming a diet rich in animal protein.
A team of scientists at the University of Seville identified a key process protecting DNA integrity in reproductive cells, preventing genetic defects during egg formation. The study found that phosphorylation acts as a 'switch' against DNA damage, allowing the genome to repair itself properly during meiosis.
Researchers identified 13 genes linked to obesity across six continental ancestries, including five previously unknown. These genes, expressed in brain and adipose tissue, are associated with increased risk of severe obesity, Type 2 diabetes, and other health problems.
Researchers have identified a new genetic marker, HLA-A*34:02, which can predict severe gout drug reactions in US patients when combined with HLA-B*58:01. This discovery could improve the safety of allopurinol for millions by expanding genetic screening.
A study published in the Journal of Neuroscience found that mutations in the CHRNA3 gene are associated with lowered sensitivity to alcohol and delayed avoidance behavior. This suggests that normal function of the chrna3 gene helps control alcohol exposure, leading to individual differences in alcohol sensitivity.
The Global Pathogen Analysis Platform (GPAP) will enable low- and middle-income countries to conduct research and surveillance of infectious diseases independently. The platform aims to prevent disease outbreaks from developing into pandemics by detecting genetic sequences of potential pathogens.
A new human lung alveolus chip model enables investigation of viral replication, inflammatory responses, and genetic off-target effects of a novel pan-influenza CRISPR therapy. The study achieved significant reductions in virus load and host inflammatory response after a single administration.
Dr. Amin's transformative insights reshape international understanding of depression genetics, identifying novel therapeutic targets and biomarkers for diagnosis and treatment. Her systemic disease model challenges traditional views of depression as a brain disorder.
The ASHG 2025 Annual Meeting will highlight advancements in rare disease research through long-read sequencing and collaboration. Genetic mechanisms of cancer risk and the clinical impact of latest epilepsy neurogenetics advances will also be showcased, along with decoding human aging and AI-powered genomics.
Scientists have developed a DNA nanospring to measure the force of protein motors like KIF1A, which can lead to improved diagnosis and treatment of diseases. The technique uses fluorescent imaging to detect the stretching of the DNA nanospring, allowing researchers to accurately measure the motor's power.
A recent study found that a person's genetic background, rather than a single gene, plays a key role in the development of complex disorders. The research revealed patterns of secondary variants that can modify the impact of primary genetic variants on clinical outcomes.
A new report highlights the potential of precision medicine to improve obesity prevention and treatment by identifying high-risk individuals and tailoring interventions. The authors emphasize the need for rigorous clinical trials to empirically determine the effectiveness of precision-based treatments.
Researchers at CNIO have created a 'human repairome', a catalogue of 20,000 DNA 'scars' that reveal how genes affect DNA repair. This information can help determine the best treatment for each cancer type and overcome resistance to therapy.
A team led by Dr. Betty Tsao seeks to uncover the genetic drivers of childhood-onset systemic lupus erythematosus (SLE) using DNA sequencing. By analyzing more than 90 families with a history of SLE, they hope to identify rare mutations that could lead to new treatments.
A major albinism gene's exon skipping levels control human skin and hair color diversity. Researchers found that OCA2 exon 10 skipping contributes to hypopigmentation, shedding light on the genetic basis of human pigmentation.
Researchers at Stowers Institute for Medical Research have identified the precise location where human chromosomes break and recombine to form Robertsonian chromosomes. The study reveals that repetitive DNA sequences play a central role in genome organization and evolution, explaining how these rearrangements form and remain stable.