Articles tagged with Human Genetics
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 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.
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.
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.
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 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.
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 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.
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.
The Finnish opera scene is experiencing a surge in diversity and creativity, thanks to its emphasis on equality and inclusivity. Over 300 operas have been composed in Finland between 1990 and 2017, with the number of new works increasing significantly in the 21st century.
Scientists analyzed 182 Candida albicans genome strains to understand its reproductive methods and genetic diversification. The study confirmed clonal reproduction but also found evidence of parasexual reproduction contributing to the pathogen's ability to adapt and evolve.
Researchers discovered a genetic link between left-right brain asymmetry and melatonin production in fish, shedding light on pineal gland function. The study found that a protein called Bsx controls the development of the pineal complex, leading to disrupted sleep-wake cycles.
Orangutans' evolution has been heavily influenced by humans over thousands of years. The critically endangered species can adapt to survive in human-dominated landscapes, expanding their habitat range.
Researchers developed a new model for comparative genomic analysis, revealing differences in gene regulation between primate species. The Phylogenetic Hidden Markov Gaussian Processes model provides insights into what makes a human a human and has implications for understanding evolution and certain diseases.
A comprehensive survey of mammalian microbiomes found humans to have a significantly lower diversity of skin microorganisms compared to other mammals. This difference may be attributed to modern hygiene practices, habitat, and co-evolution between host and skin microbial communities.
A team of researchers analyzed two 3,800-year-old genomes, identifying the oldest sequenced strain with virulence factors characteristic of bubonic plague. The study suggests a Bronze Age origin for the disease, dating it back around 4,000 years.
CWRU School of Medicine researchers synthesized the first artificial human prion, offering hope for treatment and cure of brain-wasting diseases. The discovery provides a basis for understanding how mis-folded protein structure affects prion transmissibility and manifestation in humans.
Researchers found dominant strains of equine-like G3 rotavirus infecting children in Indonesia, genetically different from human strains, shedding light on virus travel and evolution.
A study analyzing ancient Icelandic genomes of 25 individuals from the island's colonization period (870-930) found that present-day Icelanders have a 70% Norwegian genetic fingerprint. The analysis also revealed a gender bias in the population, with men of Scandinavian origin having more offspring than women of Celtic origin.
Researchers at Charité - Universitätsmedizin Berlin have developed a new drug to treat patients with genetic obesity caused by a leptin receptor defect. The treatment has shown significant weight loss in patients, and the study's findings provide insights into the fundamental signaling pathways regulating satiety.
Researchers used human and C. elegans data to understand the mutational causes of cancer, finding a resemblance between nematode worms and human cancer genomes. They discovered DNA mismatch repair deficiencies in both species, providing insights into the causes of cancer and potential treatment avenues.
Researchers have discovered that formate supplementation can prevent most neural tube defects in mice that are resistant to folic acid treatment. The study found that disrupting formate synthesis was linked to the development of these defects, and that providing pregnant mice with extra formate could prevent them. These findings offer ...
A National Institutes of Health (NIH) study has found no evidence of transmissibility of chronic wasting disease in cynomolgus macaque monkeys. The research, published in the Journal of Virology, involved exposing 14 macaques to brain matter from CWD-infected deer and elk over a period of up to 13 years.
DNA analysis of ancient latrines reveals past diets, animal domestication, and hunting practices in Northern Europe and the Middle East from 500 B.C. to 1700 A.D., with parasite eggs reflecting raw or undercooked fish and pork consumption.
A team of City College-bred fruit flies and parasitic wasps are part of an International Space Station experiment to understand how the human immune system reacts to spaceflight conditions. The goal is to inform astronauts on potential infections during long-duration missions.
A study published in Cell found that the Bajau people of Southeast Asia, who spend their lives at sea, have larger spleens than non-divers due to genetic adaptation. The research suggests that this adaptation is a rare example of natural selection in modern humans and could provide insights into managing acute hypoxia.
Scientists from Brigham and Women's Hospital have developed 3D mini-brains from human stem cells to investigate the effects of a specific gene mutation tied to major mental illnesses. The results show that the mutated mini-brains exhibit structural disruptions, suggesting a potential new target pathway for therapies.
Researchers discovered genetic and epigenetic changes in humans and chimpanzees that increase the fight-or-flight response, a trait more common in species with warfare history. These adaptations may have played a role in shaping human warfare.
Researchers identified Histone Deacetylase 7 (HDAC7) as a potential target for new autoimmune disease treatments. The study found that altering HDAC7 function in mice can cause autoimmune diseases, while also improving symptoms when the gene is restored.
Researchers at University of Sydney establish method to identify individual extracellular vesicles (EVs) using resonance-enhanced atomic force microscope infrared spectroscopy. This allows for biomarkers for diverse diseases such as cancers, cardiovascular, kidney and liver disease, dementia, and multiple sclerosis.
A research team at Lund University has discovered a crucial mechanism regulating protein production in hematopoietic stem cells. The enzyme PUS7 and pseudouridine modification play a vital role in controlling protein synthesis machinery. This control ensures the correct amount of proteins is made, preventing unbalanced stem cell growth.
Researchers at Friedrich-Alexander-Universität Erlangen-Nürnberg have identified a new molecular cause of aggressive infant leukemia in children. The study found that changes in genes in white blood cells disrupt cell growth control, leading to the production of abnormal proteins that facilitate leukaemia.
Researchers discovered mouse genes that enhance human T-cell power against liver cancer, offering new hope for patients. Engineered human T cells eradicated cancer without harming normal liver tissue.
Researchers analyzed inner ear structure in humans from diverse populations, finding variation within populations greater than between them. The shape of the labyrinth correlates with dispersal distance from Africa, providing insights into human migration history and population movements within continents.
Researchers analyzed 221 skeletal specimens to examine the correlation between inner ear morphology and genetic markers reflecting human dispersal from Africa. The study found that labyrinth morphology corresponds with dispersal patterns, offering a new avenue for individual-based genotype and phenotype comparisons.
Researchers at Texas A&M University found that early settlers in interior western Canada used the Pacific coastal route to reach temperate North America, contradicting traditional theories of migration. The fluted spear points provide evidence supporting new genetic models explaining how humans colonized the New World.
A new medicine that slows balding may also improve blood flow to vital organs by increasing arterial diameter and restoring elastin content. This could help reduce the risk of death, stroke, and other cardiovascular-related illnesses.
Researchers from CIRAD and Hong Kong University find MERS-CoV strains in African dromedaries differ from those in the Arabian Peninsula, explaining virus transmission. Genetic differences may account for disease not being transmitted to humans in West and North Africa.
Researchers discovered two distinct episodes of Denisovan genetic intermixing between modern humans and Denisovans. The genomes of modern Papuan individuals contain approximately 5% Denisovan ancestry, while East Asians have a second set of Denisovan ancestry not found in South Asians and Papuans.
Researchers found Neotropical fruit species in Central and South America have larger geographic ranges when linked to human diets, suggesting human impact on species distribution. Human use of these fruits may have driven the expansion of their ranges.
A study has identified a critical protein interaction that triggers the development of spinocerebellar ataxia type 1 (SCA1), a rare neurodegenerative disease. The researchers found that polyQ-ATAXIN1 forms a complex with capicua, which disrupts gene expression and leads to neurodegeneration.
A new study provides some of the strongest evidence yet of speciation reversal, where two distinct lineages of Common Ravens have hybridized and merged into one. The research analyzed genomic data from hundreds of ravens across North America and found extensive intermixing between the California and Holarctic lineages.
A study identified 149 variants in 22 genes, classifying them as pathogenic or likely pathogenic, and found NPHS2 was the most common mutated gene. The researchers hope to understand the correlation between genotype and phenotype to improve diagnosis and treatment for patients with nephrotic syndrome.
Researchers used open-source software and genetic analysis to identify the male brown bear that killed a female and her two cubs in the Italian Alps. The study provides new insights into infanticide in small populations, highlighting its impact on species conservation.
Researchers at Princeton University have identified a drug that can extend egg viability in worms, which could theoretically increase women's reproductive lifespan. The study suggests that the drug could help slow age-related decline in egg quality and potentially extend fertility by three to six years.
Scientists have identified a key protein quality control mechanism in the brain that plays a crucial role in regulating appetite and weight. The discovery sheds light on how genetic mutations can lead to severe forms of childhood obesity.
A global genomic study has identified genes that influence complex trait of height in cattle, confirming findings with miniature cattle and ancient DNA. The study's collaborative approach also reveals a high degree of overlap with human and dog genomes, opening up new possibilities for research on traits like temperament and body fatness.
Researchers created an open-source data atlas of human kidney development, providing detailed molecular and cellular information. The dataset will accelerate stem cell-based technologies for kidney replacement and regeneration therapies.
The Scanpy software is a candidate for analyzing the Human Cell Atlas, enabling comprehensive analysis of large gene-expression datasets. It uses graph-based algorithms to characterize cells by identifying their closest neighbors, similar to social networks.
A study at Columbia University Irving Medical Center found that far-UVC light can efficiently kill aerosolized influenza viruses in the air without harming human tissues. The use of overhead far-UVC light in hospitals, schools, and other public spaces could provide a powerful check on seasonal influenza epidemics.
A genetic study found that house dust mites replaced the traditional Piwi pathway with a new small RNA mechanism to control transposable elements, affecting up to 1.2 billion people worldwide. The discovery provides insights into the evolutionary history of these common indoor pests.
A jawbone dating to 177,000-194,000 years ago has revealed that modern humans were present in the Levant at least 50,000 years earlier than previously thought. The discovery suggests an earlier demographic replacement or genetic admixture with local populations.
Direct DNA sequencing is uncovering unexpected genetic connections between ancient and modern populations in Eurasia, suggesting early gene flow or population structure that led to Europeans and Asians. Genetic analyses also reveal Neanderthal ancestry and mixing events, providing new insights into human prehistory.
The study found that mitochondrial DNA mutation rates differ across various tissues, particularly in reproductive cells, which could lead to devastating diseases if passed to future offspring. Researchers used a novel method to isolate mitochondria from specific cells, shedding light on the mechanisms regulating gene mutations.