Research on the human genome and what it shapes. Covers AI genomics, molecular aging, biodesign, and gene-environment effects.
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 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.
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.
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.
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 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 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 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.