Articles tagged with Genomic Screens
A new DNA test has been developed to identify the genetic causes of inherited muscle disease, offering hope for diagnosis and treatment for thousands of Australians. The test, which uses long-read sequencing, screens over 300 genes and detects complex genetic changes that older tests miss.
A new genetic risk score combines rare and common gene variants with non-coding genome information to predict arrhythmia risk. This comprehensive framework can be applied to other genetically influenced diseases like cancer and Parkinson's Disease.
The BeginNGS platform uses genome sequencing and artificial intelligence to detect rare genetic diseases in newborns, achieving a 97% reduction in false positives. This technology has the potential to save thousands of lives by providing earlier diagnoses and treatment.
Researchers identified three genetic regions strongly associated with increased prostate incidence in a diverse group of African men. The study, the largest of its kind in Africa, may lead to new treatment possibilities and refined screening methods.
A comprehensive set of genomic resources for Tausch's goatgrass has been established, shedding light on the evolutionary genetics of wheat. Researchers identified a stem rust resistance gene and a leaf rust resistance gene, which will aid in breeding more resilient wheat varieties.
Researchers at KAUST have developed NanoRanger, an accurate and rapid method for genetically diagnosing Mendelian genetic disorders. This breakthrough enables diagnosis in just 12 minutes, providing a detailed picture of the genomic disorder.
The special issue explores challenges and opportunities in managing synthetic genomics risks, introducing a common global baseline for nucleic acid synthesis screening. Review articles provide insights into enhancing gene synthesis security and biosecurity practices of synthetic DNA providers.
A new machine-learning model using serum fusion-gene levels predicts HCC with an accuracy of 83-91%, significantly improving upon current biomarkers like serum alpha-fetal protein. This breakthrough tool may help identify patients at risk and monitor cancer recurrence, leading to improved survival rates.
Researchers identified an ideal small-grain gene, GSE3, and used CRISPR-Cas9 technology to edit it in male sterile lines, achieving fully mechanized hybrid seed production. This breakthrough enables significant yield improvements and enhances food security.
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 create a technique using prime editing to quickly and easily screen cancer genes, revealing new information on p53 mutations. The method allows for the analysis of over 1,000 different mutations in the tumor suppressor gene p53, which are seen in more than half of all cancer patients.
A statewide genomic screening program enrolls first 20,000 participants, providing information on genetic risk factors for diseases such as hereditary breast and ovarian cancer. The program aims to empower communities to understand the value of research and increase participation rates among underrepresented groups.
Researchers identified a putative paclitaxel response predictive biomarker for glioblastoma and breast cancer using the whole genome CRISPR knockout screen. The biomarker candidate was validated in two independent breast cancer patient cohorts that received taxane treatment.
A Geisinger Health System study found that genomic screening for hereditary hemochromatosis type 1 can identify underdiagnosed cases and encourage treatment. The screening program resulted in 69% of those notified proceeding with a lab test, and 69% of those showing iron overload beginning subsequent treatment.
A study involving 119,606 Chinese newborns found that concurrent hearing and high-throughput genetic screening significantly enhances congenital hearing loss management. The detection rate of certain gene mutations was also reported, highlighting the importance of considering multiple factors for accurate diagnosis.
A recent NIH grant will support research into the genetic factors contributing to cardiac arrhythmia, a condition affecting millions of Americans. The study aims to identify specific genes linked to arrhythmia risk and develop novel therapeutic approaches.
Researchers recommend strategic use of neurodevelopmental disorder (NDD) screening on populations with developmental delays, rather than universal genomic sequencing. This approach aims to prevent over-diagnosis and stigma, while providing targeted support for children at risk.
A recent study found that gene panel sequencing as a first-tier screening test detected 2.7% of infants, with 50.4% diagnosed correctly. This alternative method identified undiagnosed cases in 1 out of every 500 newborns and showed promise for reducing false positives.
A genome-wide screen in C. elegans reveals potential targets to delay motor aging, including VPS-34 inhibition. Partial inhibition improves neurotransmission and muscle integrity, ameliorating motor aging in worms and mice.
Researchers have developed a polygenic risk score for colorectal cancer, which can estimate an individual's likely disease risk and identify those who may benefit from earlier screening. The score can also help determine more appropriate ages to start screening based on genetic risk.
A large genome-wide association study identified novel PSA-associated variants and developed a polygenic score to correct for genetic variations in PSA levels. This approach improved biopsy referral decisions, reducing unnecessary procedures while detecting more aggressive tumors.
A new study finds that one-time genomic screening of adults aged 20-60 for hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia is cost-effective based on quality-adjusted life-year measures. The study suggests that this approach could improve disease management and reduce healthcare costs.
A new study led by Mass General Brigham researchers found that 88% of rare disease experts agree on the benefits of genomic sequencing in newborn screening. The experts recommended screening for over 600 genetic conditions, including those associated with hemophilia and retinoblastoma.
A recent study identified novel genes that influence PARP inhibitor response in prostate cancer, including MMS22L and RNASEH2B. The research found that loss of CHEK2, a previously approved biomarker, confers resistance to PARP inhibition, highlighting the need for comprehensive genomic analysis to improve treatment decisions.
A Geisinger study found that genomic screening can help detect medullary thyroid cancer (MTC) in patients with RET gene variants. The research evaluated 75 patients who had the genetic results, and 12 were found to have cancer after undergoing surgery. Genomic screening provides opportunities for early detection and treatment of MTC.
A new study in Cell Systems explores the benefits of using multiple data types in drug discovery. Gene expression and cell morphology provide complementary information for drug prioritization, advancing drug discovery, functional genomics, and precision medicine.
The 2022 NBS Research Summit explores efforts to discover novel technologies for screening, diagnosis, and treatment of genetic conditions in newborns. Clinicians will present their work on improving treatments for various diseases, including Glutaric Aciduria Type 1 and Sickle Cell Diseases.