Research on the human genome and what it shapes. Covers AI genomics, molecular aging, biodesign, and gene-environment effects.
Dogs were likely domesticated from Eurasian wolves around 23,000 years ago, and later accompanied humans to the Americas. Genetic analysis suggests all ancient dogs belonged to a single haplogroup lineage, A2b, which is no longer found in the continent.
Researchers have discovered that Maltese patients with ALS do not have flaws in the C9orf72, SOD1, TARDBP, and FUS genes, which are common in European ALS cases. Instead, a higher percentage of Maltese patients without a family history of ALS have harmful DNA mutations in rarely damaged genes.
The study investigates the biodistribution of AAV gene transfer vectors in nonhuman primates using quantitative positron emission tomography (PET). The results show that both AAVrsh.10 and AAV9 vectors distribute primarily to the liver, with lesser detection in the brain after intravenous administration.
Researchers at UC San Diego and UCLA found that de novo mutations in tandem repeats are associated with autism spectrum disorders. The study analyzed 1,600 families and identified an average of 50 de novo mutations at tandem repeats in each child, regardless of whether they were affected by autism.
Scientists have created glowing probes to visualize four-stranded DNA in living cells, revealing its interaction with molecules and shedding light on its role in cancer and other diseases. The discovery opens up new avenues for research and potential drug development.
Researchers sequenced ancient DNA from dire wolf sub-fossils, showing they diverged from grey wolves over 5 million years ago. Dire wolves remained isolated in North America for millions of years, becoming genetically distinct from other canids.
Researchers have developed a method to detect Cas9 protein, a key component of CRISPR/Cas gene editing technology, in human plasma and mouse models. This breakthrough aims to identify athletes who may be using gene doping to gain an unfair advantage.
A new study combining archaeological work with genetic technology sheds light on the peopling of the Caribbean. The analysis of 263 ancient human genomes shows two major migratory waves in the region, revealing a highly mobile population with distant relatives often living on different islands.
Researchers at Cold Spring Harbor Laboratory discovered a protein called BLMP-1 that coordinates gene activity in response to environmental changes. The protein pauses development when nutrients are scarce and resumes it when conditions improve.
Scientists have created a global atlas of direct interactions between SARS-CoV-2 RNA and the human proteome, revealing 18 key host proteins involved in viral replication. The study also identified two crucial regulators, CNBP and LARP1, which can inhibit viral replication, offering new avenues for treatment.
Researchers identify large set of gene regulatory regions in the human brain that have undergone positive selection throughout evolution. These regions are believed to contribute to the development of cognitive abilities.
Researchers at the Ragon Institute have developed a new one-step CRISPR technique to rapidly create mice capable of producing human antibodies. The method dramatically shortens the timeline for generating specialized mice, allowing scientists to accelerate their research and respond more quickly to new developments in the field.
Researchers have discovered AAV capsid-promoter interactions in the non-human primate brain, which dictate cell-specific transgene expression. This finding has profound implications for vector design in gene therapy, challenging the traditional concept of the AAV capsid as a delivery truck.
A recent study suggests that a unique human genetic mutation may contribute to the high risk of advanced cancers, with approximately 30% of people still producing dysfunctional Siglec-12 proteins. These individuals are at twice the risk of developing advanced cancer compared to those who cannot produce the protein.
Researchers discovered that a high proportion of advanced carcinomas carry a mutant form of the Siglec-XII protein, which is rarely expressed in normal humans. This finding may explain why humans are more prone to aggressive cancers compared to chimpanzees.
DeepMAge is an epigenetic aging clock that accurately predicts human age on over 6,000 DNA methylation profiles, outperforming previous clocks. The clock reveals associations with various age-related conditions, including cancer, dementia, and obesity.
Researchers at the University of Pittsburgh School of Medicine have developed a method to create lab-grown liver organoids with blood- and bile-handling systems using synthetic biology and machine learning. The resulting organs can mature faster than natural organs, extending the life of mice with failing livers.
An international team of researchers has connected specific genetic signals with specific areas of the face, identifying 203 genomic regions that play a role in human facial development. The study sheds light on craniofacial malformations such as cleft lip and palate, as well as evolutionary differences between various populations.
Researchers at the University of Chicago Medical Center have identified two new genes associated with preterm birth: HAND2 and GATA2. These genes play a crucial role in endometrial decidualization and embryo implantation, suggesting that their roles in pregnancy may be more important than previously anticipated.
A study led by The Jackson Laboratory and University of Maine found that the expression of Dlgap2 is associated with memory loss in mice and risk for Alzheimer's dementia in humans. Dlgap2 influences the formation of dendritic spines on neurons, which can affect cognitive function.
Researchers at Harvard University have captured high-resolution 3D images of human chromosomes, providing evidence to change the traditional X-like symbol used in textbooks. The images show that chromosome structure plays a crucial role in regulating gene transcription and cell division.
Recent studies report increased risk of rAAV mobilization in gene therapy, raising concerns for treated individuals and unintended populations. The research highlights the potential for rAAV vector production to replicate under certain conditions.
Researchers at UW Medicine created two cell atlases that map gene expression and chromatin accessibility in human development, providing unprecedented data for understanding cell differentiation. The atlases identify 77 main cell types and approximately 650 cell subtypes, shedding light on the regulatory 'grammar' of the cell.
A large international consortium has sequenced the genome of 130 mammals and analyzed existing data to identify important DNA positions. This information can help researchers understand disease mutations in humans and preserve endangered species.
A recent study published in Gastroenterology identified rare and common genetic variants that significantly increase the risk of developing life-threatening blood clots in IBD patients. The research suggests that genomic medicine could help lower this threat, enabling physicians to provide more precise care.
Researchers used ancient DNA samples to reconstruct the population history of prehistoric dogs, finding they diverged into at least five distinct lineages by 11,000 years ago. The study also suggests human-dog migration patterns didn't always align, with some populations showing little genetic influence from wolves.
Scientists identify a 34,000-year-old Early East Asian fossil with mixed Eurasian descent, showing a quarter of its ancestry came from western Eurasians. The study found that the individual's DNA contained segments from extinct hominins, including Denisovans and Neandertals.
Studies identified genetic variants associated with COVID-19 severity, including a locus on chromosome 3 and novel genes. Researchers also explored therapeutic strategies and transmission dynamics of the virus.
The COVID-19 Host Genetics Initiative presents the results of a genome-wide association study, exploring genetic determinants of COVID-19 susceptibility, severity, and outcomes. The initiative brings together over 1,100 researchers from 46 countries to share data and accelerate research.
The study identified over 3 million novel variants in African genomes, showcasing the continent's vast genetic diversity. It also revealed complex patterns of ancestral mixing and natural selection, shedding light on population history, environmental adaptation, and disease susceptibility.
Researchers at UNC School of Medicine found that most rhinoviruses require human protein STING to infect cells and cause disease. The discovery opens a new avenue for controlling infection and could lead to targeted therapies for treating common colds and acute wheezing episodes.
Researchers used cell-free DNA to monitor infectious and immune-related diseases, including COVID-19 infection, and identified tissue-of-origin through methylation markers. This technology has potential clinical applications in screening for tissue damage, detecting cancer early, and patient care.
Researchers at Duke University identified mutations in SARS-CoV-2 that helped it thrive in humans, including two regions dubbed Nsp4 and Nsp16. These changes affected RNA folding and may have contributed to the virus's ability to spread before symptoms appeared.
The University of Chicago research team has created a novel self-assembling nano-vaccine called ToxAll to protect humans from toxoplasmosis. The vaccine uses immunosense technology to boost each component of the immune system and deliver components of the parasite to relevant target cells.
Researchers at NYU Abu Dhabi have discovered a new immune evasion strategy used by the Plasmodium parasite, which could help develop novel therapeutic strategies and vaccines for malaria. The study found that microRNAs play a crucial role in regulating genes involved in the immune response.
The ASHG 2020 Virtual Meeting brings together thousands of scientists, clinicians, and advocates to share knowledge on the latest developments in human genetics and genomics. The event features over 200 oral presentations, nearly 2,000 scientific poster presentations, and special sessions recognizing outstanding achievements.
A new study analyzed DNA from medieval latrines in Jerusalem and Riga, Latvia, providing insights into the microbiomes of pre-industrial agricultural populations. The findings highlight the value of ancient latrines as sources of bio-molecular information and may provide context for interpreting modern microbiome health.
A new study characterizes the microbial diversity of ancient gut contents from medieval latrines, providing insights into pre-industrial agricultural populations' microbiomes. The research highlights the value of ancient latrines as sources of bio-molecular information, shedding light on the health of modern microbiomes.
Researchers analyzed gene expression in liver, heart, and muscle tissues of aging mice to define an 'aging footprint.' This data helped identify genes and proteins controlling the aging process, which may also be relevant in human aging. The study's findings have implications for understanding age-related diseases.
Researchers analyzed Y chromosomes of Denisovans and Neanderthals, finding early gene flow events led to replacement of archaic Neanderthal Y chromosomes by modern human Y chromosomes. No replacement of Denisovan Y chromosomes with H. sapiens Y chromosomes was observed.
A study found that over 10% of people with severe COVID-19 have misguided antibodies attacking the immune system, while 3.5% carry genetic mutations impacting immunity. These groups lack effective immune responses crucial for protecting against viruses, leading to life-threatening pneumonia.
Researchers have successfully sequenced the Y chromosomes of Neandertals and Denisovans, shedding light on their genetic relationships. The findings reveal that Neandertals had adopted male sex chromosomes from modern humans, with similar patterns seen in mitochondrial DNA.
Researchers at Duke University have identified a potential new drug candidate against enterovirus 71, a common cause of severe hand, foot and mouth disease. The small molecule inhibits the virus's RNA structure, blocking replication and potentially offering a new treatment option.
University at Buffalo biophysicist Priya Banerjee is investigating protein-RNA condensates, which play vital roles in cellular processes and certain human diseases. The research aims to understand the molecular forces governing their composition and behavior.
A genome-wide association study has identified genetic markers associated with a higher risk of developing capecitabine-induced hand-foot syndrome. The study found that patients with low levels of R-cadherin and involucrin were more likely to experience severe skin symptoms.
A new study found that humans exhibit slower epigenetic aging than chimpanzees, with certain DNA sites gaining or losing chemical tags in a clock-like pattern. The researchers analyzed over 850,000 DNA sites in blood samples from 83 chimpanzees aged 1 to 59 and found that aging leaves its mark on the chimpanzee genome, similar to humans.
Recent studies in human genetics reveal insights into transcriptional regulation, gene expression, and mutation's role in shaping the human genome. These findings have important implications for understanding human health and disease, with applications in fields such as medicine and evolutionary biology.
A study investigating SARS-CoV-2 infections on 16 Dutch mink farms found evidence of zoonotic transmission, where the virus jumped between people and minks. The study revealed that over 66% of farm workers had SARS-CoV-2 infection, suggesting direct contact with infected minks was a primary mode of transmission.
The segmentation clock, which governs embryonic body pattern formation, progresses more slowly in humans than in mice. Human cells exhibit slower degradation rates and longer transcription/translation times for the HES7 protein.
The GTEx project reveals population-specific and sex-specific differences in gene expression that can inform how gene variants impact aging and disease. The findings highlight the importance of accounting for sex differences and individual variation in future studies.
Bioengineers at UC San Diego have discovered a new type of membrane-associated extracellular RNA, or maxRNA, that is present on the surface of human cells. This finding suggests a more expanded role for RNA in cell-to-cell and cell-to-environment interactions than previously thought.
Researchers at University of California San Diego use artificial intelligence to identify a DNA activation code called the downstream core promoter region (DPR) that's used as frequently as the TATA box in humans. The discovery could be used to control gene activation in biotechnology and biomedical applications.
Researchers created a comprehensive single-cell transcriptome atlas of the human retina's aging process. The study reveals regional and cell-type specific differences in gene expression associated with various age-related diseases.
A study published in Cell Reports identifies new possible entry points for SARS-CoV-2 into human bodies, including the nasal mucosa and potential hotspots such as the intestine and kidneys. The research provides insights into cellular factors that could contribute to the virus's spread and suggests promising candidates for therapies.
Researchers genetically rewired yeast cells to manufacture tropane alkaloids, a family of chemical compounds used in traditional medicine for centuries. The breakthrough could provide new sources for plant-based medicines, addressing global shortages and supply chain disruptions.
A meta-analysis of NHP studies reveals that AAV gene therapy often causes DRG pathology with no clinical effects, prompting preclinical safety evaluations before clinical trials. The study's findings have the potential to streamline the development process for new vectors.
Researchers developed a lethal mouse model for SARS-CoV-2 by infecting genetically engineered K18-hACE2 mice with the virus. The study reveals acute disease symptoms and fatal outcomes in these mice, providing a valuable platform for medical countermeasure development.
A team of researchers at Children's Hospital of Philadelphia used new computational methods to link characteristic presentations of childhood epilepsies with specific genetic variants. They analyzed clinical information and large-scale genomic data, finding associations between 11 genetic causes and specific symptoms.
Researchers found that women's reproductive secretions have a stronger effect on sperm performance in HLA dissimilar male-female combinations, indicating post-mating sexual selection. The study suggests that fertilization capability is dependent on immunogenetic compatibility between partners.
Researchers developed novel variants of adeno-associated viral (AAV) capsids with improved transduction properties in the mouse retina and cornea. The efficient gene delivery of these variants was confirmed in non-human primate tissue, adding to their potential use in treating human ocular diseases.