Articles tagged with Genetic Screening
A multi-institutional study led by Mayo Clinic researchers has improved the accuracy of genetic testing for BRCA2 variants, enabling precise risk assessments and personalized treatment plans. The findings will aid in identifying patients who may benefit from targeted therapies such as PARP inhibitors.
A NIH study found that 48.6% of pregnant people with abnormal cfDNA testing results had undetected cancers, including colorectal, breast, and lung cancer. Whole body MRI was the most effective method for detecting cancer in this population.
The American College of Medical Genetics and Genomics has published a new evidence-based clinical guideline for phenylalanine hydroxylase deficiency diagnosis and management. The guideline provides recommendations for treatment, implementation considerations, research priorities, and economic considerations to improve patient outcomes.
The study analyzed DNA from over 100,000 participants and found that nearly 2,000 carried at least one genetic variant linked to these diseases. The findings have led to life-changing discoveries and new insights into personalized medicine.
Knowing family health history is crucial for reducing heart attack and stroke risk. Experts recommend following Life's Essential 8 - five health behaviors and three health factors to lower genetic risks.
A new finger prick test for Alzheimer's disease has shown strong performance in a European study, measuring biomarkers in blood from superficial vessels. The test could soon be implemented globally, increasing accessibility to Alzheimer's testing without the need for high-sensitivity analyses.
The National Comprehensive Cancer Network has updated its guidelines for genetic/familial high-risk assessment, incorporating the latest scientific research and expert recommendations to enhance screening practices and treatment options. The expanded guidelines cover various cancer types and provide guidance on genetic testing, heredit...
A recent study demonstrates that stool DNA testing is highly sensitive and specific for detecting colorectal cancer among Thai individuals, with a sensitivity of 91.5% and specificity of 90.3%. The test targets methylation statuses of three genes and may provide a viable non-invasive alternative to colonoscopy.
A team of researchers at the University of Toronto has discovered two distinct subtypes of glioblastoma cancer stem cells, each with unique genetic vulnerabilities. By targeting these vulnerabilities, a more effective treatment approach may be developed, improving prognosis for patients with this lethal brain cancer.
A new survey by Ohio State University shows that most people believe pancreatic disease affects only the elderly and that there is nothing they can do to reduce their risk. However, obesity increases lifetime risk for pancreatic cancer by 20%.
A team of researchers at the University of Toronto has developed a rapid screening system to identify compounds that can stop the growth of amyloid proteins. The study found 40 compounds that demonstrate the ability to inhibit amyloid formation, providing a promising lead for future disease treatments.
Researchers have successfully integrated genome sequencing into newborn screening to identify hundreds of rare genetic disorders. This approach allows for earlier diagnosis and treatment, promoting health equity and reducing time to diagnosis.
A study published in Biology Letters reveals that harbor seals in Alaska's Iliamna Lake are genetically isolated from other seal populations across the Pacific. The researchers found significant differences between the lake seals and marine populations, suggesting they may be a unique endemic form of harbor seal.
A new study found significant disparities in at-home test use among older adults, with those having a college degree or higher and higher incomes being more likely to use them. However, Black older adults were less likely to use these tests compared to other racial/ethnic groups.
A recent study published in Cell Reports reveals that a pregnant woman's genetic background significantly affects the effectiveness of Non-Invasive Prenatal Tests (NIPTs). The study found that a specific genetic variant in approximately 7% of women increases the odds of inconclusive results and impairs test sensitivity. This discovery ...
Researchers at Tel Aviv University discovered that aneuploid cells, which have an abnormal number of chromosomes, are more susceptible to certain types of anticancer drugs. The studies found that disrupting the MAPK pathway increases the sensitivity of these cancer cells to chemotherapy.
Researchers identified over 3,000 harmful genetic changes in the RAD51C gene that increase ovarian cancer risk six-fold and breast cancer risk four-fold. These findings can help doctors and diagnostic laboratory scientists better assess cancer risk and provide more personalized care.
A new study found that immunotherapy can effectively treat prostate cancer in men with a specific genetic type, slowing disease progression by four to 33 months. This treatment approach may be beneficial for approximately 4-5% of patients, who experience significant cancer control.
Researchers at UCSF identified signals in the metabolic system of infants who died from Sudden Infant Death Syndrome (SIDS), finding associations between lower C-3 levels and elevated C-14OH. Elevated biomarkers also led to reduced risk of SIDS, but further research is needed to validate these findings.
A new study found that one in 1,000 people in the UK carry genetic variants linked to cardiac amyloidosis, a potentially fatal heart condition. The study also revealed higher incidence rates among individuals with African ancestry, highlighting the need for early detection and monitoring.
Researchers have identified the human odorant receptor for geosmin, a compound responsible for the distinct 'earthy' to 'musty' odor found in soil, plants, and certain foods. The discovery could aid in developing novel detection systems to monitor food quality and water purity.
Researchers at Lawson Health Research Institute have made a world-first discovery using advanced technology and artificial intelligence (AI) to accurately diagnose rare diseases and prenatal exposure-related birth abnormalities. They used EpiSign technology, which measures a patient's epigenome, to identify patients affected by recurre...
A new analysis found that people hospitalized for heart disease, stroke, or cardiovascular diseases are 83% more likely to be diagnosed with anxiety, depression, or other psychiatric conditions within the first year after hospitalization. Early mental health screening and intervention are crucial for patients and their loved ones.
A UAB study found that lower transthyretin levels are associated with an increased risk of heart failure and all-cause mortality. The research highlights the importance of TTR levels in predicting heart disease risk, particularly for individuals carrying the V142I gene variant.
The PD GENEration study has found that 13% of participants have a genetic form of Parkinson's disease, significantly higher than previous estimates. The study, which reached its goal of 15,000 participants ahead of schedule, provides insights into the genetics of the disease and its potential for precision medicine.
A recent review article highlights the importance of genetic testing for men carrying BRCA1 or BRCA2 mutations, which increase their risk of developing prostate, pancreatic, and breast cancers. The guidelines emphasize the need for personalized cancer screening to help identify high-risk individuals.
Researchers developed a new NIPT-based method that reveals 33 pathogenic copy number variations (CNVs) in the Duchenne muscular dystrophy (DMD) gene. This study provides valuable insights into the frequency and spectrum of maternal CNV carriers in the Chinese population.
A Mayo Clinic study reveals that current genetic screening protocols fail to detect notable numbers of people carrying hereditary breast and ovarian cancer syndrome and Lynch syndrome mutations. The study identified 550 carriers of these mutations, with half being previously unaware of their risk.
A new urine-based test accurately measures high-risk HPV16 E7 oncoproteins in urine to detect cervical cancer. The test shows promise in making cervical cancer screening more accessible and less invasive.
Scientists have mapped over 5,000 genetic variants in the 'tumour protection' gene BAP1 that significantly increase cancer risk. These variants can be used to develop new treatments, including IGF-1 inhibitors, to slow down or prevent cancer progression.
A new editorial paper discusses molecular and cytogenetic analyses used to identify distinct subtypes of acute myeloid leukemias (AML) and myelodysplastic syndromes (MDS). Researchers found that around 15% of AML cases remain genetically unclassifiable, emphasizing the need for further research.
A retrospective study of 202 participants found that only 83 presymptomatic carriers underwent predictive testing, highlighting limitations in current genetic testing methods. The researchers advocate for a comprehensive clinical approach combining genetic counseling, predictive testing, and monitoring, as well as psychosocial support.
Researchers found that adding BRCA1 testing to prenatal carrier screening is cost-effective and can identify at-risk individuals before they develop cancer. The study simulated a cohort of pregnant patients and found that this approach could prevent 1,394 breast and ovarian cancer cases and 1,084 fewer deaths.
Japanese scientists found that polygenic risk scores (PRSs) for embryo selection are inaccurate and highly inconsistent. PRSs can only capture parts of the genetic component and may lead to unnecessary embryo discarding, making it unethical in fertility treatment.
Researchers have identified genetic changes that can leave children born with little to no immune defense against infection. The study links mutations in the NUDCD3 gene to Severe Combined Immunodeficiency and Omenn syndrome, rare and life-threatening immunodeficiency disorders.
Researchers at UC Berkeley have identified two sets of genetic mutations associated with lupus, enabling the development of targeted therapies. The discoveries could lead to more effective treatments for patients with oversensitive TLRs and TLR7 receptors.
The study, conducted by Children's Hospital Colorado, found improvements in symptoms and quality of life for children diagnosed with celiac disease after participating in a mass screening program. Mass screening for pediatric celiac disease may become more common in the US, following similar conclusions drawn from European studies.
Researchers at the University of Toronto have found a family of natural compounds that stall the unique metabolic process used by parasites to survive in the human gut. The discovery offers potential as new and more effective treatments for parasitic worm infections, which cause debilitating symptoms and developmental defects.
A national survey of nearly 1,600 US parents found that most lack knowledge about newborn screening and cystic fibrosis, leading to difficulties in understanding abnormal test results. The study emphasizes the need for greater public awareness and support from healthcare teams to improve outcomes for infants with cystic fibrosis.
Researchers at U of T have identified two compounds, diindolylmethane and diindolylethane, produced by gut bacteria that can regulate the nuclear receptor CAR, potentially treating diseases like diabetes, fatty liver disease, and small intestine ulcerative colitis.
Researchers warn of potential corporate uses of polygenic scores for risk assessment and business profits, highlighting the need for policy safeguards. Current laws and policies are inadequate to address ethical concerns surrounding the use of genetic data.
Researchers assessed swimming performance and survival under stress to evaluate the effects of three compounds on health and lifespan in Caenorhabditis. The study found complex relationships among median lifespan, oxidative stress resistance, thermotolerance, and mobility vigor.
Researchers have developed a urine-based test that detects pieces of DNA fragments released by head and neck tumors, providing a non-invasive alternative to traditional blood-based biomarker tests. The test has been shown to detect cancer recurrences far earlier than would typically happen based on clinical imaging.
The PRECEDE study found that nearly 80% of participants in the highest-risk cohort completed baseline imaging, highlighting the feasibility of improving early detection and prevention for pancreatic cancer. Researchers recommend sorting individuals into three groups based on family history and genetic mutations to tailor surveillance.
A study in the Journal of Neuromuscular Diseases found that disease-modifying gene therapy treatments improve motor function, bulbar function, and pulmonary function in infants with spinal muscular atrophy. The real-world data from a large patient registry confirms improved safety profiles for early treatment opportunities.
A recent study by Shinshu University researchers found that 1.62 per 1,000 live births have congenital deafness, with bilateral HL affecting 0.84% and unilateral HL affecting 0.77%. The main causes of these conditions were identified as hereditary factors and cochlear nerve deficiency.
Researchers at Huntsman Cancer Institute discovered a surprising connection between male infertility and an increased risk of certain cancers in families. By analyzing genetic and public health data, the team identified 13 characteristic patterns that cluster similar things together, making it easier to uncover the reason behind a fami...
A new study found that access to genomic testing for cancer is limited by factors such as test availability, patient information, and insurance coverage in both Japan and Switzerland. Despite universal insurance coverage, barriers persist due to differences in hospital accessibility, language barriers, and varying levels of reimbursement.
Researchers at Mass General Cancer Center presented advancements in rapid nucleic acid detection for cervical cancer screening using CRISPR technology. They also showcased improvements to CAR T cell therapy for pancreatic cancer, highlighting the importance of dynamic functional control to enhance its efficacy.
A recent White Paper published in the Canadian Journal of Cardiology analyzes the current understanding of genetics in atrial fibrillation and recommends screening for genetic heart disease in early onset AF cases. This may lead to identification of life-threatening ventricular cardiomyopathy and channelopathy syndromes, highlighting t...
Nematode worms can learn to avoid harmful bacteria by exposure to bacterial RNA, and pass on this behavior to future generations. This phenomenon, known as transgenerational inheritance, persists for four generations.
A study from USC Keck School of Medicine reveals a genetic variant on the IKZF1 gene contributing to increased risk of acute lymphoblastic leukemia among Hispanic/Latino children. The variant increases ALL risk by around 1.4 times and may be linked to Indigenous American ancestry, according to researchers.
A systematic review by Gogichadze et al. suggests that active pulmonary TB screening programs targeting vulnerable populations in low-TB-incidence countries are cost-effective. The authors conclude that screening immigrants and other high-risk groups is a viable approach to detecting latent infections.
The ACMG Foundation for Genetic and Genomic Medicine has presented seven Next Generation fellowship awards to promising early career professionals in medical genetics and genomics. The recipients include Xueyang Pan, Bianca Seminotti, and Adriel Yejin Kim, who will support their research projects with corporate donations from Pfizer, S...
A team of scientists at Pohang University of Science & Technology uncovered the molecular mechanism responsible for crossover interference during meiosis, a biological process that generates genetically diverse reproductive cells. The findings have significant implications for breeding and cultivating crops with specific desired traits.
Researchers at the University of Cincinnati Cancer Center have identified a new protein called p47 that helps prevent breast cancer metastasis. The study found that lower p47 expression was correlated with higher breast cancer metastasis, and that increasing p47 function could potentially lead to new therapies.
Researchers developed scSNV-seq to investigate genetic changes affecting gene activity and disease development. The technique accurately assesses the impact of thousands of DNA mutations in cells, providing crucial insights for developing targeted therapies.
Researchers identified genetic variants that predict response to treatment for preterm birth, a condition affecting one in 10 infants. High levels of mutations in certain genes are associated with lower response rates, suggesting a precision framework for future drug development.
A recent study has identified two novel gene variants linked to primary open-angle glaucoma (POAG) in individuals of African descent. The analysis of 11,275 individuals revealed that these variants are more common in people of African ancestry and contribute to the disease's pathophysiology.
A new analysis focusing on people of African ancestry identified three gene variants linked to glaucoma, including two likely causal variants and one associated with cup-to-disc ratio. The study's findings could enhance early screening and personalized therapeutic interventions for this population.