Articles tagged with Genetic Screening
Researchers found that differences in epigenetic DNA methylation predict behavioral differences between dogs better than genetic markers. Epigenetics are more informative for behavior than genetics, and the results open up new possibilities for screening and selecting desired behavioral traits in companion or service dogs.
A Geisinger study of over 90,000 patients confirmed a strong link between genetics and neuropsychiatric disorders. The research revealed that approximately one in 100 participants carried a rare gene variant increasing the risk for conditions like schizophrenia and autism spectrum disorder.
Researchers investigate how lung cancers evade the immune system to develop more effective immunotherapy treatments. The study aims to uncover a new way lung cancers disguise themselves from the immune system, potentially leading to improved treatment outcomes.
Researchers discovered a genetic mutation in the THBS1 gene linked to severe childhood glaucoma, which may improve disease screening and treatment. The finding could lead to earlier diagnosis and more targeted therapies for children at risk.
Researchers have found that genetic differences within individual sperm cells can affect their swimming behavior, which has implications for fertility and birth defects. The study identified greater variability in velocity among mutated samples compared to normal ones.
A novel HNF1A gene variant has been found to cause monogenic diabetes, affecting almost seven percent of all cases in Greenland. This discovery may pave the way for precision treatment using tablet therapy with sulphonylurea, offering a simpler and cheaper alternative to insulin.
A new study by UCL researchers found that tailoring whole genome sequencing analysis to individual patients can double the diagnostic rates of rare diseases. The personalised approach increased the diagnostic rate from 16.7% to 31.4%, detecting potential disease-causing variants in a further 3.9% of patients.
Two new discoveries led by Cedars-Sinai Cancer investigators improve understanding of ovarian cancer's development and suggest personalized therapeutic approaches. They identified four new genetic regions linked to increased ovarian cancer risk and found that some tumors may develop resistance to chemotherapy from an early stage.
Researchers from North Carolina State University have developed a new method for identifying genes relevant to the aging process in the C. elegans roundworm model. By exposing thousands of worms to random genetic mutations, they can pinpoint which genes are associated with protein aggregation and reduced lifespan.
Researchers from Brigham and Women's Hospital found that circulating tumor HPV DNA levels are linked to lymph node presence, making the test less effective for screening. This limits the use of ctHPV DNA testing for early diagnosis and treatment of oropharynx cancer.
A new study found that electronic gaming can precipitate life-threatening cardiac arrhythmias in susceptible children with previously unrecognized predispositions. The most common underlying causes were catecholaminergic polymorphic ventricular tachycardia and congenital long QT syndrome types 1 and 2.
Scientists at IRB Barcelona and the PCCB have created a genetically tractable model of Ewing sarcoma using Drosophila flies expressing a mutant version of the human oncogene EWS-FLI. This model allows for the identification of critical proteins required for EWS-FLI's oncogenic function and potential therapeutic targets.
A cohort study found that endoscopists performing colonoscopies in FIT-based screening programs should aim for markedly higher ADRs compared to primary colonoscopy screening. The study suggests that high ADRs are associated with lower colorectal cancer incidence and mortality. Researchers recommend using ADR targets, including differen...
Researchers found that nearly nine in ten cases of sudden cardiac death due to hypertrophic cardiomyopathy (HCM) are preceded by symptoms, ECG abnormalities, or a positive family history. Expanded screening programs could aid in the prevention of SCD in young individuals with HCM.
A new software application predicts the likelihood that a case of dilated cardiomyopathy has a genetic mutation. The Madrid Genotype Score identifies patients most likely to have inherited the disease, facilitating genetic screening and tailored treatment adjustments.
Researchers at Duke University have discovered a protein called GarD that cloaks Chlamydia bacteria from the host cell's immune system, allowing it to evade detection and elimination. Mutating this protein makes the bacteria vulnerable to destruction, offering new avenues for treatment.
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 scalable prototype for newborn screening, including rapid Whole Genome Sequencing and virtual acute management guidance, has been developed to rapidly screen for several hundred genetic diseases. The system demonstrates feasibility in identifying genetic diseases with effective interventions.
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.
The American College of Physicians (ACP) has issued a position paper on the ethical use of genetic testing and precision medicine in internal medicine. The guidelines address key issues such as incidental findings, education for physicians and patients, and counseling needs. ACP emphasizes the need for ongoing surveillance and anticoag...
Rice University bioscientists have developed a novel approach to control the expression of 'silent' genes in bacteria using CRISPR technology. This strategy could lead to the discovery of new antibiotics and has potential applications in antifungal and anticancer agents, as well as agriculture.
Researchers investigate regulatory frameworks governing preimplantation genetic testing in Japan, the UK, and Western Australia. The study highlights the need for a multidisciplinary approach to evaluate disease severity and make informed decisions about treatment.
Researchers at Gladstone Institutes and Stanford University identified key genes linked to T cell exhaustion. They discovered how to block these genes, resulting in healthier T cells and smaller tumors in mice with cancer. This breakthrough may lead to improved immune-based treatments for cancer patients.
SeqScreen, an open-source software toolkit, accurately characterizes short DNA sequences to detect pathogenic sequences. The program uses a curated database of thousands of gene sequences representing 32 types of virulence functions.
A recent study found 13 genetic variants associated with disease in cats, more common than previously thought. However, these variants are declining in frequency in breeds regularly screened for the markers.
Researchers have created a new electrical test to screen hundreds of gene mutations, pinpointing harmful mutations that cause inherited heart disorders and sudden death. The breakthrough can identify genetic variants associated with neurological conditions, muscle and kidney diseases.
A genetic variant in nearly 30% of Greenlanders is linked to high cholesterol and an increased risk of cardiovascular disease. The variant, p.G137S, has a marked population-level impact, increasing the risk of high cholesterol and cardiovascular disease for up to 30% of the Greenlandic population.
The new guidelines expand indication for screening to all with BRCA 1/2 gene variations, increasing chances of early detection and treatment. The guidelines also acknowledge potential downsides of screening, including false-positive results and encourage careful patient counseling.
A study estimates that more than 1 million U.S. adults carry a gene for familial hypercholesterolemia, a genetic disorder causing high cholesterol and potentially leading to premature heart attack or death. Genetic testing may help identify those at risk, but its affordability is a concern.
A study published in Med found that the human microbiome's variation explains different patient responses to statins. The researchers discovered a Bacteroides enriched microbiome with lower diversity was associated with stronger LDL-lowering effects but greater disruption of blood glucose levels.
Researchers analyzed 451 bacterial strains of C. difficile, identifying 9,924 distinct gene clusters and categorizing them into 176 genetically distinct groups. The study provides new insights into the genetic diversity and evolution of this pathogen, shedding light on its virulence factors and antimicrobial resistance determinants.
A study from the Healthy Nevada Project found that only 10% of patients with electronic health records containing genetic diagnosis experienced a change in care, emphasizing the need for follow-up education and conversations. The study also highlights the importance of including genetic diagnoses into electronic health records to maxim...
A study suggests that accounting for genetic factors causing normal variations in PSA levels could improve the accuracy of prostate cancer detection. By analyzing data from over 95,000 men, researchers identified a polygenic score that accounted for 7.3-8.7% of variation in baseline PSA levels and was not associated with prostate cancer.
A recent brain imaging study has found evidence of weakening connections between key brain areas in adolescents at high genetic risk of developing bipolar disorder. This study suggests that early intervention strategies may be effective in preventing the progression towards major changes in the brain.
Illinois researchers identified two tropical corn germplasm lines showing promising levels of tar spot resistance, regardless of location. The study developed a new method for scoring tar spot incidence and severity, which will aid breeding programs. The findings suggest resistant hybrids are key to managing the disease long-term.
Researchers have identified two glucose transporters that disrupt the energy supply to invading worm cells and stop them in their tracks. By deactivating these genes, glucose and ATP levels dropped, and worm cells stalled their spread. This discovery could lead to new ways to cut off cancer cells' fuel lines and prevent metastasis.
Researchers at the University of Birmingham identified a new gene, Highlander, that regulates self-incompatibility in plants. The discovery opens up new avenues for improving crop yields and resistance to disease.
The Southeastern Consortium for Lung Cancer Health Equity aims to address disparities in lung cancer screening among racially and ethnically diverse populations. Researchers will develop more precise methods for identifying those at highest risk of lung cancer diagnoses.
Researchers developed a novel genetic barcode system to mark cancer cells with different gene modifications and image their characteristics. The Perturb-map platform identified specific genes controlling lung tumor growth, immune composition, and response to immunotherapy, offering new approaches for targeting anti-cancer drugs.
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.
The SynGAP Research Fund has developed a pre-screening tool to identify potential SYNGAP1 patients through a free online survey. The partnership with Probably Genetic aims to screen undiagnosed patients and provide them with genetic testing resources, ultimately advancing treatment development for SYNGAP1.
Annual MRI screenings starting at ages 30-35 may reduce breast-cancer mortality by more than 50% among women who carry certain genetic changes in three genes. The predictions involve pathogenic variants in ATM, CHEK2 and PALB2 genes – which collectively are as prevalent as the much-reported BRCA1/2 gene mutations.
A new study has identified the critical genes most likely to cause coronary heart disease and trigger heart attacks. The research provides a prioritized list of 162 genes, which will enable more accurate genetic testing and targeted therapies for patients at risk of coronary heart disease.
A new DNA benchmark, developed by NIST and collaborators, enables more accurate detection of genetic variants linked to diseases such as spinal muscular atrophy. The benchmark, based on HiFi sequencing technology, helps labs and clinics sequence genes with high accuracy, critical for disease diagnosis and treatment.
A new test has been developed to screen for three rare genetic disorders - Prader Willi, Angelman, and Dup15q syndromes - in newborns. The test uses Methylation Specific-Quantitative Melt Analysis (MS-QMA) and showed high accuracy in distinguishing between those with the disorders and those without.
Researchers from Monash University have developed a method to determine which genes are responsible for congenital heart disease (CHD). The technique identified 35 new genes not previously suspected in the disease, opening the way for more accurate pre-natal genetic testing.
A study found that men with Li-Fraumeni syndrome have a 25-fold increased risk of developing aggressive prostate cancer, and those with inherited TP53 variants are diagnosed at a young age. Routine screening for prostate cancer is recommended for these individuals.
Children with autism spectrum disorder should be screened for abnormally high or low cholesterol levels, according to physicians. Research found reduced HDL-C levels in individuals with ASD, indicating a risk factor for cardiovascular disease.
Researchers at the University of Toronto have identified FAM72A as a crucial gene in antibody development, enabling high-quality antibodies by facilitating AID's effect. The findings also suggest that increased levels of FAM72A could spur cancer development and progression.
Experts debate whether newborn genome sequencing should be routine, with some arguing it can save lives and be cost-effective. A phased rollout is advocated, with genomic information disclosed sequentially at appropriate ages. The rollout requires data quality improvement and informed consent.
Researchers have developed a simple, postal urine test that can detect signs of urothelial cancer in Lynch Syndrome (LS) patients, who are at high risk of developing tumors. The test uses cell-free DNA shed into the urine to identify DNA from tumor cells with characteristic microsatellite instability.
A new study identifies four novel obesity genes and predicts a fifth, using a platform of fat fruit flies. The research found that these genes are involved in a neuronal signaling pathway that increases fat levels.
Researchers have developed new qPCR assays to quantify the transmission of antimicrobial resistance (AMR) using water and wastewater samples. These methods provide a more exact way to determine AMR by measuring DNA in wastewater samples.
Researchers found that selecting the embryo with the lowest predicted risk score reduces disease risk more effectively than eliminating high-scoring embryos. However, polygenic embryo screening offers no guarantees about a baby's health and has limited effectiveness depending on factors like ancestry and age.
A UCL-led research team has identified an anti-viral gene that increases the risk of both Alzheimer's disease and severe Covid-19. The study found that a specific variant of the OAS1 gene amplifies inflammation in the brain, highlighting the importance of the immune system in both conditions.
Researchers at the University of Virginia Health System have identified 14 genes that can cause and three that can prevent weight gain, offering a promising lead in developing new treatments for obesity. The findings were made using a worm model of obesity and automation to test hundreds of genes.
A team of Harvard researchers created an integrated pipeline, STAMPScreen, to help genetic engineers identify target genes and perform screening studies. The protocol combines computational tools with lab experiments to quickly and efficiently test gene function in living cells.
Patients with certain gene mutations are at high risk of fatal chemotherapy toxicity, with a 25-times increased risk detected in those with uncommon DPYD variants. The study suggests that adding pre-treatment screening may help prevent avoidable deaths without interrupting standard care.
Researchers at Baylor College of Medicine have developed a novel technology that enables scientists to track genetic manipulations in fruit flies more efficiently. The system uses drug-based markers for selection or counter-selection of genes, reducing the need for manual screening and increasing productivity by at least 10 times.
Researchers found no negative impact on families during the infant's first year of life after genome sequencing, even if genetic risk or carrier status were revealed. The study showed lower self- and partner-blame in families with sequencing information, suggesting it provided some degree of peace of mind.