Articles tagged with Human Genetics
Researchers used identical twins to exclude genetic influences and track immune system changes responsible for triggering multiple sclerosis. The study found that an error in the communication of immune cells leads to greater activation of T cells, causing damage in the central nervous system.
A new study finds that certain COVID-19 variants can escape the human immune system's cytotoxic T cell response in a significant portion of the population. The researchers identified 1,222 epitopes associated with major HLA subtypes, covering about 90% of the human population.
A new study finds that immune cells clear away a key Alzheimer's disease protein on an oscillating daily cycle controlled by circadian rhythms. The discovery provides a potential mechanism linking Alzheimer's disease to disruptions in sleep cycles and may lead to the development of chronotherapeutics.
A recent study by KU Leuven and The Francis Crick Institute analyzed 2,658 tumor samples and found that 21% exhibited double mutations in both maternal and paternal DNA copies. This discovery sheds new light on the origin of mutations and their role in cancer development.
A comprehensive study has revealed over 7,000 human transcription factor (TF) protein-protein interactions, with most playing important roles in transcriptional regulation. The study identifies groups of TFs with specific biological functions, such as chromatin remodelling and RNA splicing.
Research from the University of Georgia reveals that compounds used to fight fungal diseases in plants are causing resistance to antifungal medications used to treat people. The study found 12 strains of Aspergillus fumigatus resistant to both agricultural and clinical azole fungicides, suggesting a link between environmental and human...
An international research team reconstructed the genome of Steller's sea cow from fossil remains, finding inactivations of genes responsible for its unique skin structure. The study reveals a dramatic reduction in population size contributing to the species' extinction.
A recent study has identified 29 new genetic variants associated with acne, providing potential new targets for treatment and helping clinicians identify individuals at high risk of severe disease. The research, involving over 20,000 individuals with acne, also found a link between genetic risk and disease severity.
A new DNA benchmark, developed by NIST and collaborators, enables more accurate detection of genetic variants linked to diseases such as spinal muscular atrophy. The benchmark, based on HiFi sequencing technology, helps labs and clinics sequence genes with high accuracy, critical for disease diagnosis and treatment.
Scientists from Japan and USA develop a microfluidic device for purification of tuberculosis genomic DNA fragments, enabling accurate diagnosis of diseases. The device uses transient ITP and electrokinetic trapping to detect and purify small cfDNA fragments.
A groundbreaking genome-wide association study identified 123 genetic regions linked to migraine risk, including two specific genes targeted by recently developed drugs. The study provides insight into the biological basis of migraine and its subtypes, paving the way for new treatments.
Researchers developed a method called 6mASCOPE that measures DNA tagging system accuracy and distinguishes bacterial from human DNA. The study found high levels of methylation in plant, fly, mouse, and human cells, but mostly attributed to contamination.
A study found that humans have evolved less sensitive noses compared to other primates, with genetic variations affecting scent perception. Researchers screened the genomes of over 1,000 Han Chinese people and an ethnically diverse population to identify novel genetic variants associated with odor detection.
Dr. John Pierce Wise leads a team to investigate chromosome instability in lungs caused by metal exposure, with hopes of preventing and reversing lung cancer in people. The research aims to understand why humans are more susceptible to metals-induced lung cancer than whales.
A new study published in Genome Research has identified a group of genes that play a crucial role in building cellular components and may contribute to human longevity. Inhibiting these genes may increase lifespan by reducing their impact on the body later in life.
Scientists have developed a novel CRISPR-Cas3 editor from the bacteria Neisseria lactamica that improves editing efficiency and is more easily produced. The tool enables 50% editing efficiency in stem cells and 95% efficiency in other human cell lines, paving the way for research in genetic diseases and developmental biology.
Researchers found that a third of patients with wet age-related macular degeneration can safely stop eye injection therapy without further vision loss. Patients who stopped treatment showed better visual acuity, gain of vision, and less fluid in their retina compared to those requiring continued injections.
Researchers found that alterations in the RNF43 and ZNRF3 genes lead to an accumulation of lipids and inflammation in the liver, increasing the risk of developing non-alcoholic steatohepatitis (NASH) and fatty liver disease. These genetic changes also affect liver cell proliferation, contributing to the progression of liver diseases.
A molecule of RNA called CARMN has been found to play a crucial role in maintaining healthy smooth muscle cells in the blood vessel wall, which can help prevent atherosclerosis and angioplasty-induced restenosis. Restoring healthy CARMN levels may lead to new approaches for treating heart disease.
Scientists have developed a new technique to extract DNA from the 'cement' head lice that attached eggs to hairs of ancient humans. This method reveals clues about pre-Columbian human migration patterns in South America, allowing for the study of unique samples from mummified remains where bone and tooth samples are unavailable.
A genetic variation among some Greenlanders makes sugar healthy by converting it into a short-chain fatty acid called acetate, which boosts the immune system. Adult carriers have lower BMI, weight, and fat percentage, while children may experience negative consequences from consuming sugar.
The study developed a new strategy to sequence thousands of bacterial isolates with collaborators from economically-challenged countries, aiming to make genomic data more accessible. The 10,000 Salmonella genomes research consortium sequenced and analysed 10,000 Salmonella genomes from Africa and Latin America, strengthening global res...
Researchers grew 'mini-brains' from stem cells of patients with and without schizophrenia, finding reduced gene expression in patient samples that stymied brain cell development. Replacing the missing genes restored normal brain cell production, suggesting a potential target for therapy.
Researchers have introduced a new tool, Giraffe, that can efficiently map new genome sequences to a 'pangenome' representing many diverse human genome sequences. This approach allows for a more comprehensive characterization of genetic variations and reduces mapping bias.
Researchers have identified a key protein in the brain that regulates habituation, a mechanism essential for focus and attention. The study found that a decrease in this protein leads to hypersensitivity and symptoms similar to those seen in Autism Spectrum Disorder.
Researchers identified the CIROP gene, crucial for establishing proper left-right asymmetry during embryonic development, which is linked to congenital heart defects and misplacement of internal organs. The study provides insights into the development of left-right patterning and has implications for research on potential therapies.
The study found that exercise induces expression of long noncoding RNA CYTOR, which enhances myogenic differentiation and improves muscle morphology and function in aged muscles. CYTOR also re-configures chromatin accessibility at binding sites of other genes, shedding light on its mechanisms.
Humans developed natural genetic resistance to anthrax by having a diet of more ruminants and experiencing agricultural practices, leading to fewer anthrax receptors. European populations showed an even greater reduction in anthrax receptor expression compared to other human populations.
Researchers have identified a genetic variant in the B4GALT1 gene that may confer protective effects against cardiovascular disease, characterized by lower LDL-C levels and decreased fibrinogen. The discovery could inform novel therapeutic approaches to decreasing or preventing CVD.
Researchers compared genetic expression profiles of canine acanthomatous ameloblastoma and human oral tumor ameloblastoma, finding similarities in molecular mutations. The study lays groundwork for potential translational medicine, as the dog model may represent a useful clinical model of the disease.
A new computational tool allows precise prediction of protein interfaces for COVID-19 and human interactions. This breakthrough enables researchers to better understand virus development, identify high-risk populations, and develop targeted drugs.
A team of international researchers has developed a globally-applicable ethical code for ancient human DNA research, aiming to address social and cultural implications. The code proposes cooperation with stakeholders, minimal damage to human remains, and respect for indigenous communities' perspectives.
A new study found that genetic ancestry shapes the immune response to the influenza virus, with increased European ancestry associated with a stronger type I IFN response. This finding has potential clinical implications for understanding COVID-19 susceptibility and disease progression.
New research reveals how genetic variations impact COVID-19 case severity, focusing on non-classical monocytes and their role in the immune response. The study identifies potential targets for therapies to boost immune cell function and improve disease outcomes.
A new study analyzing 136 ancient Iberian genomes uncovers a genetic mix of local Chalcolithic ancestry and incoming steppe-related ancestry, with additional signals from the Mediterranean and Asia. The data suggests a structured social organization and early state-like formations during the Copper Age to Bronze Age transition.
Researchers developed a novel model to identify specific genes and genetic alterations in multiple myeloma, stratifying the cancer's severity via DNA and RNA sequencing. This model revealed diverse subtypes and high-risk patients beyond current classifications.
Researchers from the University of Rochester have further evidence that genes are evolving defensive mechanisms to counteract harmful genetic elements. The study found that specific genes developed weapons-like structures to combat 'parasites' in the human genome, highlighting the ongoing 'arms race' between these two forces.
A new study found that tumors with one mutant copy of the PIK3CA gene tend to have lower PI3K activity, while those with two or more copies often have higher PIK3α activity, leading to more aggressive tumors and poorer prognosis. The research also discovered a counterintuitive relationship between PI3K mutations, PI3K activity, and ste...
Researchers have made significant breakthroughs in understanding Parkinson's disease, revealing that affected neurons don't die but lose properties. This knowledge opens the door to new therapeutic treatments targeting the cell body, rather than just axons.
Researchers found that a receptor in the brain detects nutritional state and regulates puberty timing and growth rate, explaining why humans have been growing taller and reaching sexual maturity earlier over the past century. The discovery has immediate practical implications for testing children with growth delays.
Researchers used a yeast model to understand the dynamics of early-stage ribosomal subunit assembly, discovering snR190 functions as an RNA chaperone. The study also identified Dbp7 as the enzyme responsible for dissociating snR190 from ribosomal RNA precursors.
A team of experts from Tel Aviv University has identified 5 coronavirus proteins responsible for damaging blood vessels. The researchers hope that the identification will lead to the development of targeted drugs that reduce vascular damage in COVID-19 patients.
A team of scientists developed a free VR tool called singlecellVR, allowing users to explore single-cell datasets in VR. The program is built on previous advancements and enables users to visualize their own precomputed data directly from commonly used single-cell analysis tools.
A genomic study of the Tarim Basin mummies in western China found that they were direct descendants of a once widespread Pleistocene population known as Ancient North Eurasians. The mummies show no evidence of admixture with other Holocene groups, forming a previously unknown genetic isolate.
A man has been confirmed as the great-grandson of Sitting Bull using ancient DNA extracted from his scalp lock. The new technique analyzes autosomal DNA to establish familial relationships between living and historical individuals, with potential applications in forensic investigations.
A recent study by the University of California - San Diego team discovered that glycogen regulates and promotes fat metabolism, helping to balance energy intake and expenditure. The research suggests modulating glycogen metabolism in fat cells could provide new approaches for weight loss and improved metabolic health.
A recent study has discovered genetic markers associated with high levels of lipopolysaccharide (LPS) in the blood, a toxin linked to sepsis and cardiovascular diseases. The research also found a connection between LPS levels and blood coagulation disorders, such as thromboembolism and stroke.
A team led by NYU Langone's Robert Montgomery successfully transplanted a genetically engineered pig kidney into a human body, marking a major step forward in xenotransplantation. The procedure, performed on September 25, 2021, used a GalSafeTM pig with the alpha-gal biomolecule removed to avoid rejection.
The study analyzed data from 8,502 genetically high-risk children and found that half developed type 1 diabetes before age 6, while the other half developed it between ages 6 and 12. The findings suggest a different form of type 1 diabetes emerges in children as they grow older.
A new study identifies 13 genes as key factors in shaping physical fitness through various forms of exercise. Genetic differences account for up to 72% of the variation in muscle strength improvements.
A recent study published in PaleoAmerica journal challenges the long-held theory that Native Americans originated from Japan. The research, led by Professor Richard Scott, analyzed genetics and skeletal biology of teeth samples from multiple continents, finding little connection between the Jomon people and Native Americans.
Researchers at UMass Amherst discovered that molecular chaperones display 'selective promiscuity', enabling them to play a crucial role in maintaining healthy cells. This property allows chaperones to help many different proteins, which is essential for cell health.
A new genetic study reveals hundreds of genes that evolved to be turned on or off in the human uterus during early pregnancy, shedding light on what makes human pregnancy uniquely human. These genes are involved in cell-to-cell communication, immune response regulation, and placental invasion, highlighting the importance of evolutionar...
Researchers at Lund University discovered a previously overlooked part of our DNA that appears to contribute to the development of human and chimpanzee brains. The study found that humans and chimpanzees use a structural variant of DNA in different ways, which plays a significant role in brain evolution.
A study found that chronic stress, measured by allostatic load, was associated with a lower likelihood of completing chemotherapy and lower overall survival rate in patients with lymph node-positive or high-risk lymph node-negative HER2-negative breast cancer. Allostatic load may be a better predictor than genetic ancestry for chemothe...
Researchers have identified a shortened version of the human growth hormone receptor gene, GHRd3, which may help people survive in situations where resources are scarce or unpredictable. The study found that this variant emerged around 1-2 million years ago and was more prevalent in ancient humans and Neanderthals.
A recent study using genome-wide data from 82 ancient individuals in central and southern Italy has clarified the origins of the enigmatic Etruscans. The results show that despite their unique cultural expressions, the Etruscans were closely related to their Italic neighbors, with genetic transformations associated with historical events.
Researchers at WVU aim to characterize autism patients' behaviors using behavior-tracking technology. They plan to use artificial intelligence to identify traits associated with ASD, which could lead to more accurate diagnoses and personalized interventions. The study also has the potential to improve early detection in young children.
A large-scale study has identified thousands of genetic loci regulating blood gene expression, including cis and trans effects found in 88% of genes and 37% of trait-related variants. This research provides new insights into molecular relationships for various traits and diseases.
Caltech researchers have developed a technique to build embryo-like structures from human stem cells, opening up new possibilities for studying early human development. The technology can generate large quantities of these structures without the need for donated embryos.