Articles tagged with Human Genetics
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.
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.
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 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.
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.
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.
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 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.
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.
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
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.
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 ...
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.
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 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 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 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.
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 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.
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.