Articles tagged with Genetic Screening
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.
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.
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...
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 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.
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.
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 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...
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.
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 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...
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.
Researchers developed a training curriculum for community health workers to enhance cancer genetic screening in Black women. The 10-module program, KEEP IT, improved genetic knowledge and competencies among CHWs, who are trusted members of their communities.
A Cornell University study using lab mice with human genes found that male mice exposed to arsenic developed insulin resistance and Type 2 diabetes, while female mice did not. The researchers identified a biomarker called miR-34a associated with insulin resistance in Type 2 diabetes.
A recent study reveals that two-thirds of babies born with sickle cell disease are born in areas scoring high or very high on the scale of social vulnerability. This highlights the need for targeted efforts to support families affected by this genetic blood disease.
Researchers discovered a trio of protein segments guiding chromosomal interactions in nematodes, shedding light on the complex process. The study, published in PNAS, provides new insights into meiosis and infertility, with implications for human reproductive health.
A new study found that one in six elite athletes have reduced heart function and an enrichment of genes associated with heart muscle disease. The research highlights the need for closer monitoring of these athletes' heart health, as their genetic makeup may be 'stressed' by exercise to cause profound heart changes.
Researchers have created the first extensive map showing which genetic changes can cause disease, leading to valuable insights into neurodevelopmental disorders and cancer. The study reveals that 90% of previously unexplained genetic changes' impact on health is significant, promising speedier diagnosis and new treatment avenues.
A research team identified two different RAD50 variants in a patient with progressive bone marrow failure and immunodeficiency, leading to loss of function of the MRN complex. The findings suggest that RAD50 deficiency/Nijmegen breakage syndrome-like disorder is characterized by growth retardation and microcephaly.
Researchers discovered a bitter taste receptor in sharks, similar to the one found in humans. This finding provides insights into the evolution of bitter taste perception, dating back around 500 million years.
A new study found that genetic screening can identify patients with an inherited risk of cardiomyopathy, allowing for closer monitoring and improved treatment. The study suggests that widespread genetic testing can lead to better outcomes for these patients, including reduced deaths.
A new study from Intermountain Health reveals that genetic screening can effectively identify individuals with familial hypercholesteremia (FH), a condition affecting about 1 in 250 people. By targeting these patients with treatment, researchers aim to prevent heart attacks, strokes, and death.
A new study by RCSI University of Medicine and Health Sciences found that boosting levels of a deficient protein improves survival rates for people with severe alpha-1 antitrypsin deficiency. The research, which tracked health data from over 600 patients, showed a clear survival benefit from augmentation therapy.
Research suggests that universal screening for type 1 diabetes at two ages could predict most cases of T1D by age 15. Dr. Emily K. Sims emphasizes the importance of identifying individuals with early, presymptomatic stages of disease to prevent life-threatening episodes and improve outcomes.
Researchers from The University of Queensland and The Alfred hospital in Melbourne have identified gene variants associated with a higher risk of nodular melanoma. The study found that four genes with rare DNA variants were linked to the aggressive subtype, which accounts for most melanoma deaths.
A new study reveals that consanguinity may increase the risk of common diseases such as type 2 diabetes and post-traumatic stress disorder. The research analyzed genomic data from diverse groups to investigate the relationship between autozygosity, or genetic relatedness, and disease prevalence.
Researchers have identified 11 genes associated with aggressive prostate cancer, which could lead to more effective treatments and earlier detection. The findings come from a large-scale study of over 17,500 patients and may help personalize care for individuals with the disease.
A randomized clinical trial of 3,839 women found that skipping genetic counseling before or after taking a remote screening for ovarian or breast cancer did not increase distress, anxiety, or depression. The study suggests that eliminating mandatory pre-test and post-test counseling may increase testing completion rates.
Researchers have identified new genetic markers to detect Lynch syndrome-associated colorectal cancer with 92% accuracy. The discovery could lead to a non-invasive screening option using stool samples, reducing the need for annual colonoscopies and invasive tests.