Human Genetics
Articles tagged with Human Genetics
UMass Chan scientists develop gene editing technology capable of rewriting entire chapters of the genome
Chinese Neurosurgical Journal reports KRAS gene as key driver for brain arteriovenous malformation
BGI Genomics joins HGP2 rare disease alliance to close rare disease care gap in Asia-Pacific
New AI tool developed by Stowers Institute and Helmholtz Munich scientists predicts how cells choose their future — helping uncover hidden drivers of development
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.
Longevity-linked APOE2 gene variant helps neurons repair DNA and resist aging
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.
How can the same genetic mutation lead to different clinical outcomes?
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.
Potatoes may have shaped genetic makeup of Indigenous Andeans
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.
FAU study reveals how camels ‘beat the heat’ at the cellular level
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.
Sex differences in human brain gene expression may shape disease risk
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.
Lab-grown mini-brains shed light on childhood epilepsy
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.
University of Calgary-led study shows link between migraine genetics and post-concussion headaches in kids
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.
Diabetes study reveals previously overlooked genes tied to disease, pointing to new therapies
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.
New study hints at the cause of a painful skin condition—and at a long-awaited potential treatment
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 identify new genetic disease that interferes with brain development
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.
New study uncovers surprises in urban Peruvians
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.
Do your genes dictate how your lifestyle choices impact ageing?
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.
New computational biology tool automates and standardizes genome sequencing analysis
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.
New alliance clinical trial aims to improve outcomes in brain tumors
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...
The writing on the genes and the tumor’s power grid
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.
Thousands of genetic variants shape epilepsy risk, and most remain hidden
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
How do GLP-1 agonists affect gene expression?
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.
Genetic risk for mental illness is far less disorder-specific than clinicians have assumed, massive Swedish study reveals
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.
Life and death in Late Bronze Age Central Europe
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...
Scientists sharpen genetic maps to help pinpoint DNA changes that influence human health traits and disease risk
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.
$80 million supports research into exceptional longevity
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.
Klaudia Kuranda joins Genethon and the Institute of Myology to create a center of expertise dedicated to immunology
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.
Artificial DNA base pair developed based on halogen bonds
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.
How age, sex and genetics shape our antibodies
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.
Big data and human height: ISTA scientists develop algorithm to boost biobank data retrieval & analysis
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 ...
Family relationships identified in Stone Age graves on Gotland
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...
False alarm in newborn screening: how zebrafish can prevent unnecessary SMA therapies
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.
The genetics of anxiety: Landmark study highlights risk and resilience
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 use reshapes gene expression in key human brain regions linked to relapse vulnerability and neural damage
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.
New genetic tools offer more accurate breast cancer prediction for women of African ancestry
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 broken DNA repair tool accelerates aging
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.
The heritability of human lifespan is roughly 50%, once external mortality is addressed
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.
How genes influence the microbes in our mouths
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.
Study maps how varied genetic forms of autism lead to common features
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.
How do nature and nurture shape our immune cells?
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.
The “broker” family helps tidy up the cell
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.
Finding the genome's blind spot
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.
4D Nucleome Consortium produces detailed models of the 3D genome over time in cells
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.
Schizophrenia and osteoporosis share 195 genetic loci, highlighting unexpected biological bridges between brain and bone
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.
Inheritable genetic variant offers protection against blood cancer risk and progression
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.
Global psychiatry mourns Professor Dan Stein, visionary who transformed mental health science across Africa and beyond
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.
Study: Major gaps block genetics evaluation and testing for Black and low income patients
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 marks 15 years with 2025 European Partnership Summit in Budapest
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.
New modeling approach sheds light on rare gut disease
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.
New research identifies shared genetic factors between addiction and educational attainment
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.
From dots to lines: new database catalogs human gene types using ’ACTG’ rules
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.
Researchers develop a new computational tool to understand how genetic interactions impact human traits
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.
Ancient genetics and modern pollutants could provide a clue to endometriosis risk
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.
Ten-thousand-year-old genomes from southern Africa change picture of human evolution
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.
New technique maps genetic variants driving neurodegenerative disease risk
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.
Golden retriever and human behaviours are driven by same genes
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.
Many who die by suicide aren’t depressed, genetic research suggests
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.
23andMe Research Institute helps reconnect African diaspora to their roots with release of 250+ high-resolution African Genetic Groups
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.
New genetic tool reveals chromosome changes linked to pregnancy loss
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.
Hippo signaling pathway as a therapeutic target for nephronophthisis
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.