Articles tagged with Heredity
Researchers developed a polygenic scoring system to predict ALS disease risk, improving case status prediction in Michigan and Spain. The system takes into account common genetic variants and explains 4.1% of ALS cases caused by genetic factors.
Research identified three genetic risk factors for Dupuytren's contracture, a condition affecting fingers, that originated from Neanderthal DNA. The study, based on 7,871 affected individuals and 645,880 healthy controls, provides evidence of the intermingling between Neanderthals and modern humans influencing disease prevalence.
Gene therapy is being tested for rare skeletal dysplasia, affecting 1 in 200,000. Patients will receive a one-time infusion of viral vector containing correct gene sequence.
A new study led by UCL researchers finds that a particular gene affecting nose shape is inherited from Neanderthals and may have been influenced by natural selection. The study used data from over 6,000 volunteers and identified 33 genome regions associated with face shape.
Researchers have built a new model to examine Usher Syndrome, a leading cause of combined deafness and blindness. The model replicates the visual problems not addressed by previous models, offering insight into strategies for designing therapeutic interventions.
Research discovers that reduced levels of Hsp47 protein can prevent blood clots in humans, pigs, and bears, even when immobile for extended periods. The study's findings could lead to new medicines for people with inherited blood clotting disorders.
Scientists have successfully corrected limb length in a mouse model of FZD2-associated autosomal dominant Robinow Syndrome, a genetic disorder that affects skeletal growth and development. The treatment involves using a drug that stimulates the signalling pathway, resulting in significantly longer limbs than untreated mice.
Scientists have identified genes that play key roles in the development of coronary artery disease (CAD), a leading cause of death worldwide. The study found notable differences in gene activity between males and females, as well as between cells that were multiplying and those that were not.
The FinnGen study has identified over 2,500 genomic regions linked to at least one disease, including previously unknown risk factors for common and rare diseases. The research highlights the power of Finland's unique genetic landscape and population history in driving novel discoveries.
Researchers have developed an improved genetic test that allows for more accurate prediction of which parent's genes led to an individual's increased cancer risk. The new test confirms whether a cancer predisposing gene variant is present in a patient and determines its origin, enabling targeted prevention efforts.
Researchers found that genetic correlation estimates are confounded by cross-trait assortative mating, a phenomenon where individuals with similar traits mate more frequently. This suggests that some genetic correlations may be inflated and should be re-evaluated for disease risk prediction and therapy development.
A new study by Weill Cornell Medicine investigators discovered that error-prone DNA replication and repair may lead to mutations and cancer in individuals with BRCA1 gene mutations. The team identified a faulty DNA repair mechanism called microhomology-mediated break-induced replication (MMBIR) as a key contributor to genomic instabili...
Researchers found that the presence of one Mindbomb1 mutation does not always lead to non-compaction cardiomyopathy, but depends on genetic context provided by other gene mutations. The study identified modifier genes contributing to disease severity and diversity in affected individuals.
A new study published in Molecular Psychiatry suggests that parental discord and divorce may be indicators of children's genetic risk for future alcohol misuse. Researchers found that exposure to parents' relationship discord or divorce is associated with increased risk of alcohol use disorder symptoms in adulthood.
Researchers discover exceptional individual with 12 tumors, shedding light on early detection methods and immune system response. Single-cell analysis technology shows promise in identifying cells with tumor potential before symptoms appear.
A Tel Aviv University study shows that pressure chamber therapy can improve social skills and reduce neuroinflammation in the autistic brain. The treatment, which involves high-pressure chambers with oxygen enrichment, was found to increase blood and oxygen supply to the brain, leading to improved brain function and social behavior.
Researchers have discovered a family of selfish genes, wtf, that have survived for over 100 million years in yeast, contradicting established beliefs on their longevity. These 'killer meiotic drivers' transmit themselves to half of offspring and destroy reproductive cells without being suppressed by natural selection.
Scientists at St. Jude Children's Research Hospital studied 36 families affected by Hodgkin lymphoma and identified 44 novel genetic variants linked to cancer predisposition, including PAX5, GATA3, IRF7, EEF2KMT, and POLR1E. The study provides new insights into the disease and may help identify potential targets for new treatments.
Research using genetic variants as proxies for physical activity levels found a link between higher activity and lower invasive breast cancer risk. A higher overall level of genetically predicted physical activity was associated with a 41% lower risk of invasive breast cancer.
Researchers have developed a novel DNA-based method to identify people at greater genetic risk of developing Alzheimer's disease before symptoms appear. The method uses data on common DNA variants from over 7.1 million individuals and predicts a person's risk of Alzheimer's, depending on which DNA variants they have.
A study found that genetic testing before pregnancy can detect the risk of severe developmental disorders in 44% of cases if parents are related. However, non-hereditary mutations play a larger role in children of non-consanguineous couples, and many genes remain undetected.
A new study found nearly half of Florida panther mutations originated from Texas and Central American pumas, bringing both good and bad genetic material. Researchers emphasize the need to monitor genetic health due to potential risks, especially with small population sizes. Genetic screening for future introductions may be necessary.
A new gene therapy approach using the neuroprotective protein SynCav1 has shown promising results in slowing down ALS disease progression and increasing life span in rodent models. The treatment preserved spinal cord motor neurons and extended longevity in mice, with similar effects observed in a rat model of ALS.
A new DNA repair-kit successfully fixed genetic mutations causing Steroid Resistant Nephrotic Syndrome (SRNS) in patient-derived kidney cells. The kit, developed by University of Bristol scientists, uses a modified baculovirus to deliver larger DNA pieces and build them into human genomes.
A recent genetic study found a link between height and lower risk of coronary heart disease, as well as higher risk for peripheral neuropathy and circulatory disorders. Being tall appears to protect against cardiovascular problems, but may increase the risk of non-cardiovascular conditions.
Researchers developed a genetic test that diagnoses primary immunodeficiency disorders (PID), revealing inherited genetic defects in nearly half of patients. The test uses next-generation sequencing technology to identify specific gene variants associated with PID, enabling targeted treatment and earlier intervention for family members.
A new study published in PLOS Genetics explores how genetics influenced an individual's quality of life during the COVID-19 pandemic. The research found that some people's genetic tendencies toward better wellbeing became more influential as the pandemic progressed, particularly due to social isolation.
Researchers have identified the Xist gene as a critical regulator of fetal development in mice, leading to miscarriage and abnormal placentas when epigenetic instructions are missing. The study's findings suggest that failed Xist imprinting can be 'cured' by targeting specific genes involved in histone modifications.
A study has decoded the DNA of the Arabian Oryx, a vulnerable species that was on the brink of extinction. The researchers analyzed the genetic data to inform breeding programs and found moderate diversity in the population's gene pool.
Researchers at Clemson University have identified a genetic variation associated with congenital idiopathic megaesophagus (CIM) in German shepherd dogs, which is often fatal if left untreated. A genetic test using melanin-concentrating hormone receptor 2 and dog's sex can predict the risk of CIM with 75% accuracy.
A new study by the Princess Máxima Center for Pediatric Oncology has found that one third of children with a Wilms' tumor, the most common form of childhood kidney cancer, have a hereditary predisposition. This discovery has led to the implementation of extensive genetic testing for all children with this disease in the Netherlands.
Scientists found a protective gene that counters a deleterious mutation causing atrial septal defects, allowing some people with the mutation to thrive. The discovery provides valuable clinical information for families affected by congenital heart disease.
Pulmonary lymphangioleiomyomatosis (LAM) is a rare cancer affecting up to 1 in 1 million women worldwide, characterized by uncontrolled tumor cell growth. Researchers aim to identify new therapeutic targets using extracellular vesicles, with the goal of developing new therapies for LAM patients.
Researchers developed a new method to complete genetic data gaps using haplotype blocks, improving breeding efficiency in plants. The approach has shown comparable quality to collecting more information from DNA strands, reducing costs in animal and plant breeding.
Researchers are exploring how an engineered adeno-associated virus (AAV) can compensate for missing protein or swap out genetic mutations that cause vision problems. AAV has been found to be beneficial and is being used as a tool to deliver genes that work as they should.
Researchers at the University of Helsinki have developed a method to precisely and rapidly correct genetic alterations in cultured patient cells. The new technique combines two Nobel Prize-winning approaches to produce genetically corrected autologous pluripotent stem cells, paving the way for potential therapeutic applications.
Researchers found that re-identifying individuals from genomic data using public face images is harder than previously thought, with success rates well below idealized settings. They developed a method to alter social media photos and reduce the risk of privacy breaches.
Research suggests that regular PSA testing from age 40 could detect life-threatening prostate cancer in men with genetic hallmarks of Lynch syndrome, increasing the chances of earlier diagnosis and treatment. Men with MSH2 gene faults were eight times more likely to be diagnosed with prostate cancer at a younger age.
A UCL-led research team has discovered a new gene causing hypertrophic cardiomyopathy, an inherited heart condition. The study found that variants in the ALPK3 gene are responsible for 1-2% of adults with the condition, affecting approximately 1,250-2,500 people in the UK.
A Mount Sinai study found that polygenic risk scores were no better at predicting worsening symptoms than written reports in schizophrenia patients. The results raise questions about the use of polygenic risk scores in real-world situations, suggesting a doctor's report may be an untapped source of predictive information.
A recent study found that Cavalier King Charles spaniels have an increased number of disease-causing mutations compared to other breeds. The breed's history of intense breeding and limited gene pool has led to the accumulation of harmful genetic variants, including those linked to myxomatous mitral valve disease, a common heart condition.
Researchers estimate that up to 1.7% of the Japanese population may have undiagnosed Gitelman syndrome, a salt-wasting tubulopathy that affects kidney function and electrolyte balance. The condition can lead to fatigue, muscle weakness, and arrhythmia, but is often misdiagnosed or overlooked due to its subtle symptoms.
Researchers created a new indicator, CPRS, to measure overall cancer risk based on an individual's unique combination of DNA changes. A healthy lifestyle is associated with decreased cancer incidence in people with a high genetic risk.
A study analyzing 169 patients with Polycystic Kidney Disease (PKD) in Ireland identified genetic changes in up to 83% of cases. The findings will help doctors identify patients who may require transplantation or dialysis, improving treatment options for this inherited condition.
Researchers have found a new type of genetic change in people with hypertrophic cardiomyopathy (HCM), which can cause sudden death. This discovery will help doctors predict which family members need to be monitored and which can be ruled out from further tests.
A phase 3 clinical trial involving 37 patients showed sustainable improvements in vision after 96 weeks, suggesting the gene therapy could be a safe and effective treatment for Leber hereditary optic neuropathy. The treatment unexpectedly seemed to work in both eyes, with DNA from the vectors found in both treated and untreated eyes.
A UCI-led study demonstrates the therapeutic potential of base editing for treating inherited ocular diseases, restoring visual function to near-normal levels. The new CRISPR technology overcomes previous barriers, enabling precise and predictable correction of point mutations.
A study found that an inherited GATA3 gene variant influences how children respond to leukemia treatment and is linked to relapse. The variant also predicts minimal residual disease levels.
Researchers at UC Davis successfully produced a bull calf named Cosmo with the SRY gene inserted via genome editing, resulting in expected 75% male offspring. This breakthrough aims to increase efficiency and reduce environmental impact by producing more fuel-efficient male cattle.
Scientists have discovered that inserting the Nix gene in female Aedes aegypti mosquitoes converts them to fertile males, which could aid in mosquito control strategies. The converted males cannot fly due to the lack of another essential gene, myo-sex.
A study of 46 Finnish Leonbergers found that 15% had severe arrhythmia and 15% had milder cardiac changes, with sudden deaths linked to cardiac arrhythmia. The researchers aim to identify the genetic cause of the disorder to develop early diagnostics, breeding programs, and potential drug therapies.
A new CRISPR gene drive system, TARE, has been developed that can delay resistance and spread to regional populations. By targeting a essential gene, the drive disables one copy while leaving another intact, allowing it to spread through a population over time.
Researchers have developed a new single AAV gene therapy platform that can treat almost any mutation, showing improved vision in blind mice and paving the way for clinical trials by 2025.
Researchers have identified a second gene, BSND, which determines the severity of kidney disease in patients with Joubert syndrome. The discovery has significant implications for diagnosis and treatment of genetic kidney diseases, offering hope for personalized therapies to reduce disease severity.
Gene therapy approaches are being developed to treat a variety of inherited neurometabolic diseases, including X-linked adrenoleukodystrophy and mucopolysaccharidoses. Microglia are emerging key players in these diseases and are targeted for therapeutic efficacy.
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.