Articles tagged with Heredity
A genetic variant in the DNMT3A region of chromosome 2p appears to help people with MRSA clear blood stream infections by regulating immune response. The mutation reduces levels of anti-inflammatory cytokine IL-10, allowing for a more effective host response.
Scientists uncover genetic variations in grapes, explaining differences in taste and color between wine varieties. The study's findings also have implications for plant breeding and understanding nutritional values of other fruits and vegetables.
A study published in the Journal of Neuromuscular Diseases reveals four clinical characteristics associated with secondary modifying genes in CMT1A. The researchers identified significant genomic loci containing candidate genes that could explain disease variability and potentially predict natural course of disease.
Researchers have identified DZIP1 gene mutation as a potential cause of MVP, which leads to congenital defects and abnormal heart rhythm. The study's findings may facilitate drug-based interventions for the condition.
Research on guppy fish reveals that genes in males are preserved over generations, allowing the evolution of bright colors. This genetic stability enables the conservation of characteristic traits, such as coloration, in males.
A team of biologists has discovered a key aspect of chromosome inheritance that helps ensure the faithful passage of short chromosomes during reproduction. They found that vast regions near the ends of both long and short chromosomes are primed for high-density genetic exchanges, known as EARs.
A retrospective study found that inherited mutations in pancreatic cancer susceptibility genes may increase the risk of developing pancreatic cancer in patients with specific precursor lesions. The study analyzed DNA from 315 patients and found a higher likelihood of invasive pancreatic cancer in those with inherited mutations.
A new study led by Brenda Andrews and Charles Boone uncovers the role of genetic background in shaping trait inheritance. By analyzing yeast strains, they identified modifier genes that affect gene function and predict biological outcomes from genome sequence alone.
A new study found that male squirrels store more food than females and inheriting a territory from a male squirrel can increase lifetime pup production by 50%. This means young squirrels that take over prime real estate from a male will have better survival rates and reproductive success.
Scientists at UC San Diego have developed the world's first CRISPR/Cas9-based approach to control genetic inheritance in a mammal. They successfully engineered an active genetic element that can be copied from one chromosome to another, allowing for the control of multiple genes in mice.
Scientists have identified a common genetic mutation in bulldogs and French bulldogs that causes their characteristic screw tail and is linked to the rare human disease Robinow syndrome. The discovery sheds light on the molecular mechanisms underlying this inherited disorder, which affects only a few hundred people worldwide.
Researchers have identified a single mutation in the MAPT gene as the culprit behind inherited frontotemporal dementia, leading to impaired communication between brain neurons and neurodegeneration. The study offers new potential treatment targets for both this condition and Alzheimer's disease.
A study of 350,000 people has identified eight genetic differences associated with red hair, revealing new insights into its inheritance. The research also uncovered over 200 genetic variations linked to blonde and brunette traits, including those related to hair texture and growth patterns.
Scientists discovered that mistakes in proofreading the genetic code of retinal cells lead to a form of inherited blindness, retinitis pigmentosa. The study, published in Nature Communications, offers hope for a new gene therapy treatment.
A new genomic study reveals five distinct groups of DNA sites driving unique forms of type 2 diabetes, with potential implications for personalized treatment approaches. The research identifies subtypes based on genetics and physiology, which could help physicians tailor interventions to individual patients.
Researchers developed a single gene therapy vector that preserved retinal structure and function for over 8 months in a canine model of autosomal dominant retinitis pigmentosa. The treatment had potential implications for treating inherited retinal degeneration associated with the rhodopsin gene.
Mary-Claire King has been recognized by ASHG for her tireless advocacy on using genetics to help people and families worldwide. Her lab has helped reunite 130 families through mtDNA sequencing, and her work with the UN Forensic Anthropology Team has identified victims of extra-judicial execution.
Researchers at Harvard Medical School identified inherited and acquired mutations that drive clonal hematopoiesis, an age-related white blood cell condition linked with higher risk of certain blood cancers and cardiovascular disease. The study found that inherited genetic variants can influence the acquisition of later-life mutations.
Researchers found that banded mongooses inherit their feeding preferences from their escorts, not biological parents, and these learned behaviors last a lifetime. The study also suggests cultural inheritance may play an important role in many animal species, shaping individual diversity.
Mongooses learn lifelong habits from escort animals rather than their genetic parents, according to University of Exeter researchers. This cultural inheritance helps maintain diversity within groups, contradicting expectations that it would lead to uniformity.
Researchers recommend translocating Sumatran rhinos to breeding centers due to low population numbers and genetic diversity loss. Combining remaining rhinos can prevent genetic erosion and potentially save the species from extinction.
Researchers at UC San Diego have developed a gene drive system targeting the invasive spotted-wing drosophila, a fruit fly causing millions of dollars in damage. The Medea system dramatically biases inheritance rates with near-perfect efficiency, allowing for potential control of populations.
Researchers at Saarland University have created a software tool called WhatsHap that can analyze which gene variants were inherited from each parent, providing a key breakthrough in understanding genetic inheritance. The technology has the potential to become a routine examination in hospitals, similar to blood group identification.
Swedish researchers study hybridization of Italian sparrows from Crete, Corsica, Sicily and Malta, finding independent events between house sparrow and Spanish sparrow. The populations have distinct genetic compositions due to limitations on genetic combinations, with certain genes always inherited from the house sparrow.
An international panel of experts has developed a comprehensive set of recommendations for genetic counseling and testing in men with high-risk prostate cancer. The guidelines aim to inform screening, treatment planning, and personalized care, taking into account the rapidly evolving field of practice.
Researchers at the University of Edinburgh's Roslin Institute are investigating gene drive technology to curb pest rodent populations. They aim to reduce or eliminate pest species using a more humane method.
Researchers at Brigham and Women's Hospital identified a new genetic cause of erythropoietic protoporphyria (EPP), a photosensitive blood disorder. A dominant mutation in the CLPX gene was found to lead to excess porphyrin production, contributing to EPP.
Researchers propose that environmental factors play a significant role in shaping gender-specific traits, rather than solely genetic inheritance. This idea challenges the long-held assumption that biological sex directly influences behavior.
A study found that specific genetic mutations and inherited genes may contribute to hemiplegic cerebral palsy. Mutations in certain parts of an individual's genetic makeup were identified, with some variations being inherited from parents.
A new study found that bone strength is an inherited measurement that can be used to identify genes important for skeletal health. High-resolution images allowed researchers to estimate bone strength, revealing a significant link between genetic determinants of bone mineral density and fracture risk.
A new study suggests bone strength is hereditary, with its genetic determinants similar to those affecting bone mineral density. This discovery has implications for understanding fracture risk and developing prevention strategies.
Scientists at UC Berkeley and UC Riverside have developed a gene editing technique using CRISPR/Cas9 technology to suppress mosquitoes carrying diseases like malaria. The new technique, multiplexing, can target multiple locations in a gene simultaneously, increasing the effectiveness of gene drive systems.
Researchers discovered a genetic survival strategy in fission yeast that uses a 'poison' to eliminate competition, but also keeps an 'antidote' for its own transmission. This mechanism, found in the wtf4 gene, can lead to infertility and has potential applications in eradicating pest populations or facilitating desirable traits.
A UCLA study has discovered a pair of genes in Caenorhabditis elegans that encode both a poison and its antidote, representing a clear example of 'selfish genetic elements'. The research suggests that these elements could be used to stop the spread of diseases like malaria.
A new study on genetic data of prehistoric human remains shows that only a few women participated in the migration from the Pontic-Caspian Steppe around 5,000 years ago, whereas men made up most of the migrants. This suggests that different social and cultural processes drove the two migrations.
The article discusses the importance of considering genome context (karyotype) in systems biology and molecular cytogenetics. It highlights the need for a new genome-based conceptual framework to integrate these fields, which will mutually benefit both disciplines.
Katherine High discusses gene therapy progress for hemophilia and inherited retinal disorders, highlighting key scientific, regulatory, and commercial challenges. Her leadership in the field has been critical to its current success.
Researchers developed a novel gene editing strategy to correct thalassemia mutations in mice, alleviating symptoms and normalizing hemoglobin levels. The technique, which uses nanoparticles and synthetic DNA, has the potential to treat people with inherited blood disorders like sickle cell anemia.
Researchers from the University of Maryland have observed molecules of double-stranded RNA being passed directly from parent to offspring in Caenorhabditis elegans, suggesting a key mechanism for non-genetic inheritance. The study reveals that dsRNA can silence genes in offspring even if it doesn't match the parent's genes.
Researchers at TSRI and STSI used 'molecular autopsies' to detect gene mutations responsible for sudden deaths. In 40% of cases, molecular autopsies revealed a likely or plausible cause of death, often variants of genes inherited from relatives.
A comprehensive study on canine hereditary disorders found that 1 in 6 dogs carried genetic variants for diseases, and 1 in 6 previously unreported variants were discovered in a specific breed. The research highlights the importance of collaboration between academia and industry to improve dog health and welfare.
Researchers estimate that heterozygous familial hypercholesterolemia affects up to 1.5 million people in the US. Patients with this condition are at five times higher risk for coronary heart disease over the long term compared to those with average LDL cholesterol levels.
Researchers have identified a new disease gene associated with severe pediatric cardiomyopathies, allowing for improved genetic counselling, predictive testing, and early treatment. The discovery also provides a potential drug development target for treating affected children and family members.
Researchers developed a predictive model that uses patient-specific stem cells and genetic data to forecast heart defect types in pediatric patients. The model was tested on human cardiomyocyte cells from patients with specific mutations, achieving accurate predictions of hypertrophic or dilated cardiomyopathy.
Researchers discovered an inherited genetic marker associated with less favorable melanoma survival, while another variant showed a stronger correlation with better survival. These findings could lead to the development of personalized treatment plans for high-risk patients.
A new gene editing technique using CRISPR/Cas9 has been shown to improve vision in rats with inherited blindness. The researchers successfully removed a genetic mutation that causes the disease, allowing the rats to see better. Further development is needed, but this breakthrough offers hope for treating inherited diseases.
Researchers identified an inherited ETV6 gene variation associated with an increased risk of childhood leukemia. The study found that the variation, which disrupts DNA binding function, may play a significant role in inherited predisposition to cancer.
Researchers have discovered how a common gene mutation causes long strands of RNA to block pathways that move proteins into a cell's nucleus, leading to molecular traffic jams. Molecular therapy has been shown to reopen blocked pathways in human and fly cells, providing hope for treatments for ALS and dementia.
A new study demonstrates that gene therapy can give life-long protection to photoreceptor cells in a mouse model of retinitis pigmentosa. The preserved cells were able to drive visually-guided behaviour even in later stages of the condition and despite becoming less sensitive to light.
Researchers at Imperial College London have identified a new genetic defect that causes severe obesity and type 2 diabetes in humans. The defect is associated with an impaired protein called carboxypeptidase-E, which regulates appetite, insulin, and reproductive hormones.
Researchers have pinpointed the genetic cause of a rare form of blindness, which can present itself as a key-hole shaped defect in the eye. The miR-204 gene mutation has been linked to inherited retinal dystrophy associated with ocular coloboma.
Researchers introduce single-letter DNA change into human red blood cells, increasing oxygen-carrying haemoglobin production and alleviating symptoms of sickle cell anaemia. The approach is effective, safe, and non-inherited, offering a promising alternative to conventional gene therapy.
A new study published in the Genetics journal estimated that humans carry an average of one to two recessive disease mutations, which can cause severe genetic disorders or prenatal death. The study used a unique community's detailed family histories and genealogical records to estimate the number of mutations per person.
New research reveals stark variation in genetic testing services for inherited eye disease in England, with the South-east ahead of other regions. The study shows that genetic tests have been available on the NHS for over a decade and next-generation sequencing technology has made it possible to map many genes simultaneously.
A new study found that high methylation levels in the Fragile X gene are associated with increased symptoms of depression and social anxiety in women with the premutation genetic abnormality. This blood test may help diagnose individuals at risk and initiate early treatment.
Chromothripsis, a hidden genetic disorder, can cause severe birth defects in children despite its absence in healthy parents. The condition affects multiple genes and leads to difficulties getting pregnant, miscarriages, and intellectual disability.
Researchers identified a genetic susceptibility factor for UV tanning dependence, with variations in the PTCHD2 gene linked to increased risk. The study of over 319,000 participants highlights the importance of genetics in shaping individual responses to UV exposure.
Researchers develop a method to activate expression of paternal Ube3a allele, reducing cognitive deficits associated with the disorder. A study in mice showed promising results, paving the way for future human trials.
The Genetic Eye Disease (GEDi) test, developed by Massachusetts Eye and Ear, is a comprehensive genetic test for inherited eye disorders. It includes all known genes associated with these conditions and has been shown to be 98% accurate in detecting genetic variants, outperforming whole exome sequencing.
A new study from Harvard Medical School reveals that genetic variants control DNA replication timing, varying among people. This variation affects mutation rates and individual disease risk, including blood cancers.