Articles tagged with Human Genetics
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.
A recent study from the University of Illinois Urbana-Champaign sheds new light on the origin and evolution of the genetic code, providing valuable insights for genetic engineering and bioinformatics. The research team found that the genetic code's origins are mysteriously linked to the dipeptide composition of a proteome, with dipepti...
Genomic imprinting discovered by Davor Solter and Azim Surani reveals maternal chromosomes contribute essential information missing in paternal chromosomes. This phenomenon, coined genomic imprinting, involves tiny methyl groups attached to DNA's four bases regulating fetal growth and development.
A recent sale of genetic data by 23andMe highlights critical gaps in legal protection for genetic information in the US. The authors argue that stronger safeguards are needed to protect consumers from potential misuse and exploitation of their genetic data.
Researchers developed a computational tool to analyze mRNA stability, identifying genes involved in immune system function and linked to autoimmune diseases. The study suggests that mRNA stability may be a key mechanism behind many immune-related diseases.
Researchers found 22 previously unknown genetic variants associated with type 2 diabetes by considering participants' hormone levels. The analysis suggests that sex hormone levels interact with genes to increase the risk of developing the disease.
The study reveals that Slavic groups originated in the region between the Dniester and Don rivers and migrated across Central and Eastern Europe. The genetic data show a mosaic of different groups adapting to local contexts, with no significant sex bias in migrations.
Researchers found 148 fungi-associated genetic variants linked to 9 fungal taxa and associated with chronic disease risk. The study sheds light on the human genetic determinants of the mycobiome, a previously understudied group of gut microorganisms.
Researchers at Salk Institute discover a new microprotein, SLC35A4-MP, that regulates mitochondrial structure and function in brown fat tissue. The study reveals the microprotein's role in maintaining healthy cellular metabolism and regulating body temperature.
Researchers mapped the surface envelope glycoprotein of human endogenous retroviruses, opening doors to new diagnostic and therapeutic opportunities. The study revealed specific antibodies that target the viral proteins, potentially leading to new cancer immunotherapies and treatments for autoimmune diseases.
Researchers have developed 'molecular scissors' that can precisely and permanently disable the hepatitis B virus's hidden genetic material. The treatment has shown promising results in laboratory tests and HBV-infected mice, with a 99% reduction in circulating viral DNA. This innovation represents a significant step towards a functiona...
Dr. Rentería's Australian Parkinson's Genetics Study (APGS) includes nearly 20,000 volunteers, generating a comprehensive genetic database to understand Parkinson's disease variability. He incorporates wearable sensors and digital biomarkers to address clinical heterogeneity.
Researchers uncover how EZH2 gene mutations sabotage healthy copy, leading to intellectual disability and overgrowth, with implications for related diseases and cancer. The study provides new insights into chromatinopathies and potential targeted therapies.
A new study found that genetic variants in the IL6 gene are associated with a reduced lifetime risk of coronary heart disease, stroke, and peripheral artery disease. These variants also reduce the risk of pneumonia and sepsis, countering fears about impaired immune response.
A large-scale study published in PLOS Medicine found no association between early life antibiotic exposure and the development of autoimmune diseases in children. Researchers analyzed data from over 4 million Korean children and discovered no increased risk of Type 1 diabetes, Juvenile idiopathic arthritis, or other autoimmune conditions.
A new study found that a gene passed down from extinct archaic humans, Denisovans, is present in modern Latin Americans with Indigenous American ancestry and provides an adaptive advantage. The researchers also discovered the gene's presence in ancient individuals excavated at archeological sites across North and South America.
Researchers at the University of Waterloo have developed a novel method using modified M13 bacteria to deliver targeted gene therapies for genetic disorders. This approach shows promise as a cost-effective alternative to current methods, which can be expensive and trigger toxic side effects.
A new method called Causal Pivot detects hidden genetic drivers and subgroups patients by true biological causes of their illnesses. The tool paves the way for major advances in personalized genetic medicine by revealing genetic "routes" into diseases.
A recent study reveals that ORC2 subunit regulates epigenetics and gene expression by compacting chromatin and attracting repressive histone marks at some sites, but activating gene expression at others. This regulation also prevents CTCF binding at certain sites, leading to changes in chromatin structure and gene expression.
An international team reconstructs the genetic interactions of populations in the Southern Caucasus over time, showing a mostly constant ancestry profile. Evidence of migration from neighboring regions is also found, with notable instances of cultural adoption and genealogical links to Central Eurasian Steppe populations.
Researchers at Harvard Medical School found that lithium loss in the brain is an early change leading to Alzheimer's, while a novel lithium compound can reverse memory in mice. The study suggests a new theory of the disease and a potential strategy for diagnosis and treatment.
A new study found that kids of obese parents are more likely to have obesity due to inheriting related genes. The study suggests that a mother's BMI may be particularly important in determining a child's weight, both through direct genetic inheritance and indirect nurture effects.
A new study found that mothers' genetics may have a greater impact on their children's weight than previously thought. Researchers analyzed genetic and health data from over 2,600 UK families to examine the association between parental BMI and child birthweight, BMI, and diet.
Researchers uncover more clues about the risk conferred by variants in the MUTYH gene, which can cause abnormal growths and increase colon cancer risk. The study's high-throughput functional analysis method accurately sorts variants into functional and non-functional categories.
Researchers at Salk Institute launched a machine learning framework called ShortStop to explore overlooked DNA regions and discover microproteins with potential roles in disease. The tool identified 210 new microprotein candidates in lung cancer data, including one validated target for therapeutic treatment.
The American Society of Human Genetics recognizes Dr. Harry Dietz for his work on Marfan Syndrome, Dr. Eric Green for his leadership in advancing human genetics and genomics, Dr. Mike Talkowski for his pioneering contributions to cytogenetics and genomic medicine, and Dr. Elizabeth Bhoj for her extensive work in translational genetics.
A new study by University of South Australia researchers uses genetic recall to explore links between multiple sclerosis (MS) and the Epstein-Barr virus. The study aims to identify early warning signs or biomarkers for MS, enabling early detection and intervention.
Researchers from RIKEN have discovered that Japanese people's responses to alcohol can be divided into three clear clusters based on genetic analysis and experiments. These clusters are associated with specific combinations of gene variations, including ALDH2 and ADH1B, which can help identify individuals at risk for alcohol-related di...
Researchers identify two human brain genes that contribute to brain size and synapse signaling in zebrafish, providing a roadmap for discovering more genes. The study's findings have significant implications for understanding language disorders and autism.
A large Danish study shows that children with a high genetic risk for ADHD are more likely to experience severe neglect and childhood maltreatment. This risk is also influenced by parental mental illness, with girls generally exposed to more maltreatment than boys.
A recent study identified 37 human-specific genes linked to brain development and cognitive abilities, which are hijacked by cancer to drive tumor growth. The researchers discovered nearly half of these genes become aberrantly activated in cancerous tissues, promoting tumor cell proliferation.
A study of 365 adults found nearly one in four had a genetic condition causing their ICU admission, which was unknown to nearly half of those patients and their doctors. The researchers recommend offering genetic testing to all adults admitted to the ICU to improve care and reduce health disparities.
Researchers identified four distinct groups of autism linked to specific genetic variants and biological processes. The study's person-centered approach analyzing phenotypic and genotypic data from SPARK enabled more precise diagnoses and personalized support.
Researchers have identified a gene signature indicative of hepatic ferroptosis using an iron overload-induced mouse model and validated it in human liver injury systems. The study highlights the role of ferroptosis in liver injuries and offers potential therapeutic targets.
A comprehensive analysis of 2,762 Indian genomes reveals a complex history of genetic mixing, endogamy, and population bottlenecks that shaped the country's genetic variation, health, and disease. The study found that most genetic variation in India can be explained by a single migration out of Africa about 50,000 years ago.
A new study from the University of Bath found that individuals with a higher IQ make more realistic predictions, leading to improved life outcomes. Smarter people are significantly better at forecasting, making fewer errors and showing more consistent judgement compared to those with a lower IQ.
Researchers have identified a previously unknown organelle called the hemifusome that plays a crucial role in cellular sorting and recycling. This discovery could lead to targeted treatments for complex genetic disorders like Hermansky-Pudlak syndrome, which affects multiple systems in the body.
Researchers discover vitamin C promotes epidermal thickening by reactivating genes essential for skin cell growth, suggesting a promising treatment for thinning skin in older adults. Vitamin C supports active DNA demethylation by sustaining TET enzyme activity.
Researchers at UCLA have discovered a chromatin-based strategy that enables cells to rapidly produce proteins when nutrients are scarce. This 'priming' mechanism, driven by the MYC gene, allows cancer cells to adapt and survive under metabolic stress.
The new resource provides a detailed map of blood regulatory variation in South Africans, enabling researchers to interpret genetic variations using genome-wide association studies (GWAS). This innovation has the potential to uncover why people from specific genetic backgrounds may be more susceptible to certain diseases.
Researchers at University of Otago have identified a genetic cause for a rare developmental disorder affecting brain growth and function in children. The study found that a specific change in the CRNKL1 gene is associated with severe microcephaly, pontocerebellar hypoplasia, seizures, and intellectual disability.
Researchers identified genetic factors linked to environmental sensitivity in identical twins, influencing ADHD symptoms, autistic traits, anxiety and depression symptoms, psychotic experiences, and neuroticism. The study highlights the importance of gene-environment interactions in shaping mental health.
A new study using NIH's All of Us Research Program data finds that people from the same reported racial or ethnic group can have wide ranges of genetic differences. Genetic ancestry is more complex than self-reported race and ethnicity, with significant associations between ancestry and biological traits like BMI and height.
A new study combines ancient DNA with dietary evidence and linguistics to paint a vivid picture of pre-colonial coastal communities in Papua New Guinea. The research highlights the influence of migrations and interactions on genetic makeup, supporting previous studies on the settlement of remote islands.