Articles tagged with Genetic Screening
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.
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.
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.
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.
The American Heart Association scientific statement highlights the importance of pre-test and post-test counseling for families with children undergoing CVD genetic testing. The statement emphasizes the need for a multidisciplinary approach to address family concerns and provide appropriate follow-up care.
The article considers the ethical issues surrounding enrolling children with neurodevelopmental conditions, such as autism spectrum disorder and fragile X syndrome, in clinical trials. Parents may face difficult decisions about whether to enroll their children due to concerns about potential loss of positive aspects of their condition.
A recent UNSW study found that women who received their polygenic risk score (PRS) for breast cancer experienced minimal regret and reduced distress compared to those who declined. The researchers also discovered that more women reported regret about not knowing their PRS score, highlighting the importance of providing clear informatio...
Researchers found two new TLR7 gene variants in young, healthy men with severe Covid-19, highlighting the importance of genetic screenings for early intervention. These variants were associated with impaired immune response and increased risk of serious illness, emphasizing the need for preventive vaccination strategies.
A national study found that only half of children with cardiomyopathy have undergone genetic screening, despite critical benefits for treatment and potentially curing the disease. Genetic screening can provide lifesaving information to families and prioritize children for a lifesaving cardiac transplant.
A new computational tool called mixscape has been developed to help understand the function and regulation of human genes. Mixscape identified a molecular mechanism for regulating immune checkpoint proteins that govern the immune system's ability to identify and destroy cancer cells.
Researchers at Newcastle University are studying the role of genes in congenital heart defects to better understand their formation and development. By examining the pharyngeal endoderm tissue from mice, they hope to identify key genes involved in forming large blood vessels and prevent potential defects.
Researchers developed a new technique, CRISPR-LICHT, allowing for the analysis of hundreds of genes in human tissue using cerebral organoids. The method identified a specific mechanism controlling brain size and pinpointed microcephaly genes, shedding light on a genetic disorder.
A new tissue screening assay for human cerebral organoids identified 25 additional candidate genes for microcephaly, nearly doubling the number of currently known genes linked to the rare neurological condition. The CRISPR-LICHT technology revealed these genes associated with both known and previously unknown microcephaly-driving pathw...
Researchers identified a new pathway that protects cells from Ebola virus and coronaviruses like SARS-CoV-2, by blocking viral entry into the cell. The MHC class II transactivator (CIITA) gene induces resistance to Ebola virus through the activation of CD74 p41, which disrupts viral protein processing and prevents infection.
A new study shows that community-based genetic screening can identify individuals at increased risk for three common inherited conditions, including Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterolemia. The study found that up to 90% of carriers were not previously identified in a clinical setting.
A new study published in PLOS Medicine shows that genetic pre-screening can reduce the number of screening tests needed to identify individuals at risk for osteoporotic fractures by up to 41 percent. This could lead to cost savings and more efficient screening programs.
A new genetic risk score identified more men at increased risk for abdominal aortic aneurysm and could benefit from screening to detect it prior to rupture. The study suggests that current screening recommendations should be extended to include testing for those with high polygenic risk scores.
Katelynn Sagaser received the 2020 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her research on hypophosphatasia, a previously unrecognized disease. The award recognizes genetic counselors' vital contribution to patient care and highlights their role in thorough interpretation of genetic testing results.
Researchers used a genetic screen to identify genes essential for neuron survival, including those involved in cellular metabolism. The study also uncovered new targets for treating Huntington's disease, such as the Nme gene family.
A study found that selecting embryos based on traits like height or IQ using current knowledge of gene variants may not be effective in increasing the desired traits. The simulations used real-world data to confirm predictions about traits were not always accurate, and limitations such as variability and ethnicity make it challenging.
Researchers developed a computational model, Combined Essentiality Scoring (CES), to accurately identify essential genes in cancer cells. The model predicts cancer essential genes with higher accuracy than existing methods and suggests two predicted genes as potential drug targets for breast cancer and leukemia.