Articles tagged with Human Genetics
A study published in PLOS ONE suggests that machine learning can provide an equally accurate and reliable prognosis for patients with cardiovascular disease, compared to traditional methods. The use of genetic programming reduces bias and human error, allowing complex associations to be made transparent to clinicians.
Researchers at VIB-KU Leuven discovered a genetic mutation that can cause a juvenile form of inflammatory joint disease. The study used next-generation sequencing and immunology approaches to unravel the disease mechanism, providing insights into the development of targeted therapies.
Researchers at the University of Kentucky have assembled the axolotl genome, a salamander that can regrow body parts. The completed genome will help scientists understand how this animal achieves its remarkable regenerative abilities.
Researchers discovered 677 genes and small RNAs expressed differently between African and global Salmonella strains, leading to alterations at the protein level. The study provides a powerful tool for understanding the bacteria's genetic basis and potential antibiotic resistance.
A new study has found a genetic factor on chromosome 6 that increases the risk of spontaneous coronary artery dissection (SCAD), a rare and atypical form of heart attack primarily affecting young to middle-aged women. The genetic variant, known as rs9349379, is also associated with a small protective effect from classic heart attacks.
Scientists identify epigenetic marker and genes that cause heart failure in fruit fly offspring, even when fed a normal diet. Reversing the epigenetic modification or over-expressing these genes protects subsequent generations from negative heart effects.
Researchers have identified a group of genes that induce differences in the developing brains of male and female roundworms, triggering puberty. This genetic pathway may serve the same function in controlling human sexual maturation timing, providing new insights into sex-based brain differences.
A new mouse model has revealed the crucial role of PARL in maintaining mitochondrial respiratory chain function and structural integrity. The study found that mice lacking PARL display symptoms reminiscent of Leigh syndrome, highlighting the importance of understanding the protein's mechanisms in neurodegenerative diseases.
Neuronal cell death in Alzheimer's disease may be beneficial as it removes dysfunctional neurons, according to new research published in Cell Reports. The study suggests that the anti-aging mechanism of 'cell competition' plays a crucial role in protecting the brain from damage.
Researchers discovered shared and virus-specific mechanisms used by dengue and Zika viruses to counteract human and mosquito immune defense, hijack host proteins, and disrupt brain development. They found that Zika virus causes microcephaly in fruit flies by disrupting the function of ANKLE2 protein.
The study identifies genes associated with longevity in parrots, including telomerase, which may also play a role in human aging. The researchers also found parrot-specific gene-regulating regions near neural development genes linked to human cognition.
Researchers found that vorinostat effectively inhibited HPV DNA amplification and virus production in preclinical experiments. Additionally, the treatment induced programmed cell death in infected cells. The study suggests that HDAC inhibitors could be promising compounds for treating benign HPV infections.
Researchers in the University of Helsinki have confirmed a fossilized seal hybrid between grey and ringed seals, with genetic analysis suggesting possible interbreeding in the wild. The discovery provides insights into hybridization between mammalian species, including early humans.
Researchers at Princeton University have developed a comprehensive way to evaluate how immune responses of humanized mice measure up to actual humans. The study highlights an experimental paradigm to address the gap in understanding immune responses to human pathogens and potential vaccines.
The study found the earliest evidence of Siberian ancestry in Fennoscandia in a population inhabiting the Kola Peninsula, Russia, dating to around 4,000 years ago. Ancient DNA from Finland reveals that people genetically similar to present-day Saami people inhabited areas in much more southern parts of Finland than the Saami today.
A new AI model has been developed to translate mouse model data to human disease conditions, increasing the accuracy of extrapolation by up to 50%. The model, known as Found In Translation (FIT), has been tested on 28 different human diseases and uncovered novel disease-associated genes.
A new gene, slincR, discovered in zebrafish could help explain human susceptibility to chemicals. The study found that the gene regulates sox9b, a crucial gene in human development.
Scientists have created a model of the upper chambers of the heart using 3D-engineered human heart tissue, which can serve as a tool for evaluating disease mechanisms and testing new drugs. The tissue is derived from human induced pluripotent stem cells and responds to atrial-selective drugs.
Researchers have developed a mouse model that closely replicates human diabetic nephropathy, revealing a key role for immune and inflammatory responses in promoting kidney damage. This finding suggests targeting these pathways may be useful for preventing or slowing the development of diabetic nephropathy.
Researchers have identified a new gene, LSS, responsible for hypotrichosis simplex, a rare form of hair loss. The gene's mutation impairs an enzyme crucial to cholesterol metabolism, leading to progressive hair loss from childhood on.
A new analysis of an aggregated set of family trees suggests that the heritability of life span is well below past estimates, likely no more than seven percent. This finding could be due to assortative mating, where people select partners with similar traits, including longevity.
Researchers found that dietary restriction maintains cellular fitness in intestinal cells, preventing age-related damage and leaky gut. A rich diet promotes excessive cell loss and permeability, linked to human conditions like inflammatory bowel disease.
A new study published in Human Fertility found that single women who freeze their eggs for non-medical reasons are trying to avoid 'panic parenting.' The research also highlights the need for clearer information about the likelihood of having a baby with these eggs. Many participants reported feeling emotionally difficult and unsupport...
Researchers identified a 48-hour cycle regulating the skin's response to ultraviolet rays, revealing a tradeoff between stress response and pigmentation. The 'UV-protection timer' optimizes sun damage prevention by synchronizing natural defense mechanisms.
Researchers aim to improve guidelines for human-animal chimera research, considering moral status and animal welfare. The project will address conceptual, ethical, and procedural limitations in existing ethics guidance.
Researchers developed a polygenic risk score for lifespan based on weighted contributions from relevant genetic variants, predicting which participants were likely to live longest. They also found associations between genetic variants and Alzheimer's disease, heart disease, and smoking-related conditions with overall lifespan.
Researchers have identified a novel human immunodeficiency syndrome caused by a mutation in the IKBKB gene. The mutation disrupts the immune system, resulting in excessive inflammation and reduced numbers of antibody-producing B cells and effector T cells.
Researchers found a correlation between AMY1 gene copy numbers and faster starch digestion rates. Individuals with more copies of the gene displayed higher blood glucose responses to starchy foods.
A new study published in the Journal of Biological Chemistry has identified a human RNA molecule called nc886 as a potent activator of the innate immune system. The RNA molecule's ability to turn on protein OAS sets off a chain of events that destroys viruses.
A genetic mutation in IFNλ4 reduces its effectiveness against the hepatitis C virus in humans compared to chimpanzees and African Pygmies. This discovery highlights a potential weakness in human immunity to certain viral infections.
Researchers at the Buck Institute have developed a new method to pinpoint genetic differences between closely related species, which could lead to breakthroughs in understanding human longevity, disease resistance, and regenerative abilities. The technique was tested using an ancient divergence in yeast and has wide applicability to pl...
A team of scientists discovered a gene signature linked to spinal cord injury severity, which can predict functional recovery. The study identified key genes that are switched on or off in response to injury, potentially informing the development of biomarkers for treatment.
A study found that viruses influenced the evolution of humans, particularly in adapting to pathogens. Neanderthal DNA was shared with modern humans, providing resistance to viruses, and its presence suggests selective benefits.
Researchers at DTU Bioengineering have developed a high-tech antivenom against black mamba venom using human antibodies, which can potentially save thousands of lives annually. The breakthrough antivenom uses a biotechnological method to discover human antibodies, allowing for large-scale production and industrial use.
A study in mice revealed that MAVS deficiency leads to altered gut microbiota, increased intestinal permeability, and susceptibility to allergic contact dermatitis. The findings suggest a causal relationship between the gut microbiome and allergies.
A study published in PNAS reveals that an ancient retrovirus, HK2, is more frequently found in drug addicts and associated with addiction. The virus integrates near a gene involved in dopaminergic activity, manipulating nearby genes and predisposing individuals to addictive behavior.
Researchers have discovered a genetic risk factor for Alzheimer's disease and related dementias, which may lead to new treatments. Humanin, a naturally occurring mitochondrial peptide, decreases with age and is associated with an increased risk of diseases linked to older age.
Researchers at University of Tsukuba identified two molecules, Ptf1a and Meis, that specify the development of a hypothalamus-like region in sea squirt embryos. These findings have implications for understanding brain development and potentially treating diseases like Parkinson's disease.
A Northwestern University study found that historical bias leads researchers to focus on the same 10% of human genes, despite many having strong links to disease. The study suggests that policy interventions promote exploratory research but mainly reinforce established topics.
A recent study reveals that historical bias in research funding mechanisms and social forces reinforce the focus on established genes, leading to an under-studied 80% of all human genes. The researchers discovered that poorly characterized genes have a 50% lower chance of becoming independent researchers.
Researchers at Cincinnati Children's Hospital Medical Center created a database of daily gene activity rhythms, linking them to drug metabolism. This could lead to improved timing of medication administration by synchronizing with the body's internal clock.
A research team led by Tohoku University has revealed the evolution of a gene related to psychiatric traits. The SLC18A1 gene variant is associated with schizophrenia, bipolar disorder, anxiety, and neuroticism, suggesting that natural selection may have shaped human psychiatric diversity.
Researchers found a genetic variation associated with thymic output in humans, which can affect immune responses. This discovery may help explain differences in immune responses between healthy individuals and has implications for precision medicine and vaccine development.
The opium poppy's genome has been sequenced to understand its pain-relieving properties, with a notable whole-genome duplication event occurring around 7.8 million years ago.
A new international collaboration led by the CNIO reveals that up to 20% of human genes may not be coding genes, but rather non-coding or pseudogenes, which could have significant effects on biomedicine. The study analyzed gene catalogs and found that many genes were more likely to be non-coding than previously thought.
Researchers have successfully boosted expression of the dystrophin gene to therapeutic levels in large animal models, a crucial step towards developing a treatment for Duchenne muscular dystrophy. The study demonstrates that CRISPR/Cas9 approaches can improve muscle function and integrity in DMD patients.
Researchers found that cold climate cycles coincided with the absence of Neanderthal tools and the rise of modern humans in Europe. The limited diet of Neanderthals, which relied on terrestrial meat sources, may have contributed to their decline during stadials.
A Pew Research Center survey finds that majority of Americans accept genetic engineering of animals to prevent disease transmission and grow organs for transplants. However, others oppose the use of technology to improve meat quality or revive extinct species, citing concerns about ecosystem risks.
A new computational approach has identified genes that may enable microbes to colonize the human gut and survive in its harsh environment. The researchers found thousands of genes across different species that are prevalent in the gut, including those specific to this environment.
A team of researchers has successfully sequenced the genomes of 25 ancient individuals from Southeast Asia, revealing six distinct population groups. The findings suggest that prehistoric populations in the region had higher genetic affinities with present-day Japanese and were influenced by language-speaking groups such as Austronesians.
Researchers have discovered a nematode worm that develops similar nerve damage to humans when exposed to mutated TTR proteins. The C. elegans model allows scientists to study the molecular mechanisms of TTR-linked diseases and potentially develop new treatments.
Research from Purdue University found that when two strains of a parasite infect a host, the combined virulence is often worse than with only one strain. This could be bad news for people affected by schistosomiasis, a disease prevalent in Africa, the Middle East, and the tropics.
Researchers found that modern pygmy genomes showed no evidence of gene flow from the extinct 'hobbit' species, contradicting previous expectations. However, they did find genetic variants associated with short stature and dietary adaptations in genes involved in fatty acid metabolism.
The study of Flores pygmy humans shows they have Neanderthal and Denisovan ancestry, but no direct link to Homo floresiensis. The short-statured phenotype is a result of recent polygenic selection on standing genetic variation.
Researchers have developed a more sensitive single-cell RNA sequencing method, mcSCRB-seq, to analyze the functional state of individual cells. This technique provides a molecular fingerprint of each cell's mRNA population, revealing its protein-making capacity and gene regulation.
A study at New York University found that people's facial emotion recognition varies based on their conceptual understanding of emotions. When individuals believe certain emotions are more similar, the faces of those emotions are perceived as more similar, suggesting a role for pre-conceived beliefs in emotional perception.
A Belgian study emphasizes the need for human-based tools in treating non-alcoholic steatohepatitis (NASH), a chronic liver disease impacting millions globally. The study proposes a roadmap to better understand NASH's biological mechanisms, crucial for developing effective treatments.
Cecilia Lindgren receives ASHG Mentorship Award for sustained exemplary mentorship, recognizing her wide-ranging impact on mentees' research fields and career paths.
Researchers identify structural and functional differences in human cGAS that set it apart from other mammals, enabling its unique immune-sensing capabilities. The discovery informs the design of precision cancer therapies by targeting the protein's specific structural features.
Researchers have identified a human protein, DDX3, that is exploited by arenaviruses to promote viral growth and evade the immune system. This discovery suggests DDX3 could serve as a potential target for new anti-arenavirus strategies.