Articles tagged with Human Genetics
Researchers have developed a new enzyme called a base editor that can directly change DNA base pairs, enabling precise genome editing. This technology may one day enable the treatment of genetic diseases by erasing harmful mutations and writing in helpful ones.
A new study analyzes genetic material from people in Western Asia, identifying DNA sequences inherited from Neanderthals. The research suggests that this region is the most likely spot where humans first encountered Neanderthals, with implications for human health and well-being.
Researchers used multi-omics profiling to study prediabetic individuals, finding that each person has a unique molecular profile. The study aimed to develop personalized approaches to prevent diseases like diabetes by analyzing environmental stressors and lifestyle factors.
A survey of genetics professionals found high support for research into somatic uses of gene editing, but more divided views on germline uses. Most geneticists felt it would be acceptable for therapeutic purposes in the future, differing from public opinions.
Researchers found duplications of noncoding DNA that may explain genetic contributions to human disease and evolution. These duplications, which include regulatory sequences, may have impacted the expression of genes nearby or elsewhere in the genome.
Researchers discovered 96 transcription regulatory sequences (TRSs) used by arterivirus Simian hemorrhagic fever virus to produce subgenomic messenger RNAs, exceeding the previously reported nine TRSs. The study found that multiple TRSs are involved in producing structural proteins and alternative reading frames.
Scientists at Columbia's Zuckerman Institute are creating an atlas of gene activity for all cells in the human spinal cord. The single-cell atlas will help researchers understand and treat spinal-cord disease and injury, including ALS.
Researchers at LMU's Gene Center found that human cells use a different mechanism to recognize misplaced DNA than mouse cells. The inflammasome complex is activated via the cGAS-STING recognition mechanism, triggering both an antiviral response and a classical inflammatory reaction.
McGill researchers uncover a cellular mechanism contributing to communication breakdown between neurons in Alzheimer's disease. They found inadequate levels of the protein RBFOX1, which stabilizes RNAs involved in synaptic transmission, may be a factor in faulty connections characteristic of Alzheimer's.
A new study from Scripps Research Institute found that sleep loss cannot be explained by caffeine intake alone, but rather by changes in feeding behavior. The research suggests that studying sleep and eating together could lead to the development of therapies for metabolic disorders like obesity and diabetes.
The National Institutes of Health has completed a detailed atlas documenting the stretches of human DNA that influence gene expression across various tissues and cell types. This resource will aid researchers in understanding how individual genomic variation leads to biological differences, such as healthy and diseased states.
Researchers identified genes linked to insulin secretion, immunity, and ultraviolet protection that showed adaptive selection in African dogs. The study found functional verification of ADGRE1's role in providing host immunity to Plasmodium infection.
Researchers discovered that LSD1 removal in adult mice induces changes in gene activity similar to Alzheimer's disease. LSD1 protein is also perturbed in human brain samples with Alzheimer's and FTD, suggesting it as a central player in these neurodegenerative diseases.
A new computer program called SCENIC enables researchers to quickly and accurately identify different cell types in the human body. The method helps understand how cell fate is regulated and could lead to the discovery of master regulators and potential drug targets.
Researchers found that prehistoric humans deliberately sought partners beyond immediate family to avoid inbreeding. This suggests they developed complex mating systems, possibly foreshadowing modern marriage ceremonies, which may have contributed to their success.
Researchers have identified proteins that control cell complexity in animals, revealing a key difference between humans and simpler organisms like fruit flies and sea urchins. The study found that specific genes interact with chromatin to regulate cellular processes, contributing to the increased complexity of mammals.
Ancient African genomes show human populations diverged around 350,000-260,000 years ago. The study analyzed 7 ancient genomes, including a Stone Age hunter-gatherer and Iron Age farmers, finding correlations with fossil records.
A new study has pushed back the emergence of modern humans by an estimated 50,000 years to between 350,000 and 260,000 years ago. The findings were made possible by a collaboration between geneticists and archaeologists who reconstructed the full genome of a 2,000-year-old boy found in South Africa.
A genomic analysis of ancient human remains from KwaZulu-Natal reveals that southern Africa played a significant role in the history of humankind. The study estimates the divergence among modern humans to have occurred between 350,000 and 260,000 years ago.
A special issue in the Journal of Dental Research explores recent scientific and technical advances in craniofacial development and genetics. The discoveries reported could improve diagnosis and treatment of challenging craniofacial and dental anomalies.
Researchers have discovered that the presence of ApoE4 exacerbates brain damage caused by tau tangles, leading to neurodegeneration and memory loss. Blocking ApoE4 in the brain may prevent these effects, offering a new potential therapeutic target for Alzheimer's disease.
A genetic analysis of Papua New Guinea reveals a sharp genetic divide between highlanders and lowlanders, dating back 10,000 to 20,000 years. The study, led by Anders Bergström, genotyped 381 individuals from 85 language groups across PNG, finding strong genetic differentiation within both highland and lowland populations.
A study published in mBio finds that household environment plays a major role in shaping the salivary microbiome, with similar bacteria found in individuals living together. The research team sequenced DNA and saliva from an extended Ashkenazi Jewish family to determine how environmental influences affect the microbiome.
A study has characterized all of the circular DNA in the worm <em>C. elegans</em> and three human cell types, revealing different sets of circles in different cell varieties. The researchers used a 50-year-old lab technique called density gradient centrifugation to separate and purify the circular DNA.
Researchers have discovered a new type of glycan that survives in 4 million-year-old animal fossils from Kenya. This breakthrough could reveal human origins and diet, including the consumption of red meat. Gc-CS detection may classify ancient hominin fossils into two groups.
Researchers have engineered gut bacteria to produce molecules that mimic human ligands, binding to receptors involved in glucose and appetite regulation. This breakthrough may lead to novel therapeutic approaches for diseases such as diabetes and obesity.
A study by Stanford researchers found that a widely used mouse model of the human immune system is inadequate for studying stem cell transplants. The humanized mice, engineered to have a human-like immune system, failed to robustly reject genetically mismatched human stem cells, making them unsuitable for studying immunosuppressive drugs.
A study identified a genetic risk factor for typhoid fever that targets bacterial virulence and cholesterol metabolism. The VAC14 gene variant reduces the ability of Salmonella Typhi to invade human cells, suggesting a potential preventive approach with cholesterol-lowering drugs.
Scientists have created healthy offspring from genetically infertile male mice using a new technique that removes the extra sex chromosome. The approach has potential for treating human infertility caused by Klinefelter syndrome and Double Y syndrome.
University at Buffalo researchers have developed a method to compare human and rodent cells, providing insight into gene expression patterns conserved across species. This approach identified a new gene involved in myelin repair that may become a therapeutic target for MS patients.
University of Nevada, Reno researchers are developing mosquitoes that can detect and avoid human odors, potentially breaking the transmission cycle of mosquito-borne diseases. The goal is to create genetically modified mosquitoes that feed on other animals, reducing resistance development.
A study of 116,279 individuals found 16 genetic markers associated with human lifespan, including 14 new to science. Lower brain expression of certain genes is also linked to increased longevity.
Researchers at Salk Institute have visualized chromatin structure in living human cells using a novel DNA dye and advanced microscopy. They found that chromatin forms a semi-flexible chain with varying packing density, suggesting that gene activity is determined by compaction rather than higher-order structures.
Researchers developed a new approach to model human immune variation, identifying gene markers that correlate with human disease outcomes. The study found that accounting for immune diversity is critical for predicting disease outcomes.
Researchers have found evidence of archaic admixture in modern Sub-Saharan African populations through the study of a salivary protein called MUC7. This suggests that interbreeding between different early hominin species may not have been unusual, but rather the norm.
The American Society of Human Genetics has honored Dr. Arthur L. Beaudet with the Victor A. McKusick Leadership Award, recognizing his groundbreaking work on uniparental disomy and its implications for genetic diseases. His current research focuses on neuronal carnitine deficiency as a risk factor for autism.
Forensic scientists at Nagoya University have successfully extracted human DNA from mosquitoes' stomachs and amplified it using PCR techniques. The team found that human DNA remained viable in mosquito blood for up to two days after feeding, providing a new tool for crime scene investigators.
Researchers found dosage compensation to be widespread in butterflies and moths, with consistent expression of Z-linked genes between sexes. However, gonads showed imbalance due to masculinization of the Z chromosome and loss of female-biased genes.
Researchers have identified a specific gene mutation in myopathy, a type of muscle disease, and found it plays an essential role in muscle fibre integrity. The study uses a zebrafish model to provide new insights into the genetic basis of the disease.
The study suggests that a hominin migration out of Africa occurred between 470,000 and 220,000 years ago, introducing their mitochondrial DNA to the Neanderthal population. This event reconciles discrepancies in nuclear and mitochondrial DNA phylogenies, providing new insights into human evolution.
A single genetic change linked to reduced human height is also associated with an increased risk of osteoarthritis. The variant has been positively selected in many human populations, suggesting it may have provided a survival advantage in colder climates.
A team of investigators discovered a genetic program that some cancers use to cloak themselves from the immune system, affecting detection and treatment outcomes. The research highlights potential new immunotherapy targets and biomarkers for cancer survival.
Researchers have identified a crucial protein, CIB2, essential for sound wave conversion into brain signals in the inner ear. The study reveals how this protein facilitates mechanotransduction, enabling people to interpret sounds.
A team of scientists has documented early, permanent human settlement in the Andes dating back to around 8,000 years ago. The findings suggest that hunter-gatherers adapted to high-elevation life and survived year-round despite harsh conditions.
A recent study has found that the HERV-K Gag capsid interferes with HIV-1 assembly, resulting in reduced particle release and infectivity. The researchers observed a correlation between coassembly of HERV-K Gag and decreased HIV-1 particle formation.
Researchers found genes that form heart cells in humans and animals in a sea anemone's gut, which may help explain its regenerative abilities. The study suggests potential for tweaking human gene communication to stimulate regenerative healing and treat heart conditions.
Researchers computationally recreated ancient chromosomes of the first eutherian mammal, revealing chromosomal changes that occurred over 105 million years. The study provides a detailed picture of evolutionary breakpoints and their role in forming new species and contributing to human diseases like cancer.
A study found that chronic immune-mediated inflammatory diseases are linked to a higher prevalence of cardiovascular disease in patients. The research identified specific genetic patterns associated with cardiovascular disease risk across different chronic IMID patient groups, which could lead to the development of more efficient preve...
A team of scientists has identified genetic mutations that could potentially allow the bird flu strain H7N9 to spread between humans. The researchers found that certain mutations in a key protein could enable the virus to latch onto human cells, sparking concerns about a potential pandemic.
Researchers bioengineered human liver tissues that exhibit previously unknown genetic-molecular crosstalk controlling developmental processes. The study reveals key communication between signaling proteins and receptors that instruct the development of liver tissues.
Researchers have identified the mouse lemur as an ideal model for studying primate biology and human diseases such as cardiovascular disease and Alzheimer's. The study, which involved analyzing hundreds of lemurs in Madagascar, has already revealed unique genetic traits including obesity and progressive eye disease.
The Human Cell Atlas is using sequencing technology to redefine every cell in the body. The platform will allow scientists to share and analyze vast amounts of diverse information generated by researchers across academia and industry.
A research team has identified the HAND2 gene as a key regulator that triggers the formation of cardiac valves in mouse embryos. This discovery advances our molecular knowledge of cardiac valve development and may also help provide genetic diagnosis for patients with congenital heart malformations.
Researchers aim to genetically modify human bone marrow cells to produce more bone morphogenetic protein, a key factor in bone healing, to tackle challenging bone repairs such as extensive fractures and failed spinal fusions. The five-year grant will support the study's efficacy and safety assessment.
A team of researchers discovered that C. elegans makes decisions by calculating mathematical integration of environmental information via calcium ion concentration changes in nerve cells. This process is similar to the human brain's integration of information for decision-making, suggesting a possible genetic link between the two.
Researchers have found that microbes manipulate the molecular machinery of animal cells, triggering patterns of gene expression associated with health and disease. The study suggests ancient parts of the genome and interactions with microbes are relevant to modern-day human diseases.
Scientists have successfully generated blood-forming stem cells in the lab using pluripotent stem cells from patients' own cells. The advance opens up new opportunities to create immune-matched blood cells and potentially treat genetic blood disorders.
A new genomic study on southern Mediterranean populations from Sicily and Southern Italy reveals a shared genetic background extending to Cyprus, Crete, Anatolia, and the Aegean islands. This shared Mediterranean ancestry may have originated in prehistoric times as a result of multiple migration waves.
Researchers have discovered a more favorable virus species for delivering genes, as its surface structure avoids liver toxicity. This could enable the use of viruses in gene therapies and vaccine development.
According to Rutgers University researcher John McGann, humans can detect and discriminate an extraordinary range of odors, rivaling that of rodents and dogs. The human olfactory bulb is similar in size and number of neurons to other mammals, challenging the long-held misconception about human sense of smell.