Articles tagged with Genetic Testing
Researchers have genetically engineered a rat model of Down syndrome to test new therapies and explore the condition's unique genetics. The rats exhibit cognitive impairments, anxiety, and hyperactivity similar to humans with Down syndrome, providing a valuable tool for medical research.
The study identifies nine key pathways that seem to be crucial in developing Parkinson's disease, some of which have not been linked before. The findings improve scientists' understanding of genetic risk factors for developing the disease and pave the way for personalized medicine.
Researchers at Clemson University have identified a genetic variation associated with congenital idiopathic megaesophagus (CIM) in German shepherd dogs, which is often fatal if left untreated. A genetic test using melanin-concentrating hormone receptor 2 and dog's sex can predict the risk of CIM with 75% accuracy.
Researchers at Kyoto University have identified a genetic mutation causing albinism in wallabies, tracing it to an inserted retrovirus gene. The study found that the mutation was caused by a copy of the HIV-like virus inserted into the host's genome.
Scientists developed a novel approach to securely share and analyze genomic data, enabling a more nuanced understanding of heritable diseases like cancer. This 'federated analysis' method allows researchers to analyze large amounts of genomic and clinical data without compromising patient privacy.
A recent study published in Applied In Vitro Toxicology found that tobacco-free nicotine pouches exhibit reduced levels of toxicants and biological activity compared to combustible cigarette smoke. The products, manufactured by Imperial Brands, showed substantially reduced genotoxicity and cytotoxicity in three toxicological assays.
Researchers found that a community-based approach to reporting APOL1 genetic test results resulted in lower blood pressure readings among hypertensive patients. This trial suggests that involving communities in genetic testing could be beneficial for reducing the risks of chronic kidney disease.
Researchers from Skoltech identified four genetic markers that can predict tocopherol composition in sunflower lines, which is crucial for producing high-quality dressing and cooking oils. This breakthrough discovery will help facilitate faster breeding of new varieties.
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.
Researchers surveyed over 26,000 genetic genealogy participants about their experiences discovering previously unknown relatives. Most reported learning the identity of at least one relative, with some finding close family ties and others experiencing life-changing discoveries.
Researchers developed a methodology to compress extensive genetic data libraries, reducing their size while preserving essential information.
A team of scientists used genetic testing to uncover the tactics of international criminal networks behind ivory trafficking out of Africa. The analysis linked most large ivory shipments to a handful of interconnected smuggling networks, expanding efforts to track and seize illicit shipments.
Pulmonary lymphangioleiomyomatosis (LAM) is a rare cancer affecting up to 1 in 1 million women worldwide, characterized by uncontrolled tumor cell growth. Researchers aim to identify new therapeutic targets using extracellular vesicles, with the goal of developing new therapies for LAM patients.
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.
Researchers found that dietary intake of flavan-3-ols activates brown adipose tissue, leading to increased heat production and fat burning. Long-term consumption of flavanol-rich foods may also lead to the development of a healthier metabolism.
Researchers have discovered a new method to predict heart attacks by analyzing the gene expression of foamy macrophages, revealing a person's cardiovascular health. The study found that foamy cells can be both beneficial and detrimental depending on their behavior in individuals with certain conditions.
Researchers at Johns Hopkins Medicine have successfully transplanted a kidney from a COVID-19 donor, demonstrating that healthy kidneys from such donors can be safely transplanted. The recipient has shown no signs or symptoms of the virus and has excellent kidney function since the transplant.
A single genetic test using RNA sequencing has been used for all children with cancer in the Netherlands since 2018, improving diagnosis and treatment in seven cases. The technique picked up 78 fusion genes, 23 of which led to a more accurate diagnosis or possible treatment.
A randomized controlled trial of combinatorial pharmacogenetics testing found no significant improvement in depressive symptoms among adolescents with depression. However, the study suggests that testing results may influence physician decision-making and could be useful in specific cases where individual gene-drug pairs impact clinica...
The use of polygenic risk scores in pre-implantation genetic testing is unproven and can lead to discrimination and stigmatization. ESHG argues that there is no evidence PRSs can predict disease likelihood in unborn children, making their application premature.
Researchers analyzed DNA sequences and electronic health records of thousands of individuals to discover that the chance a pathogenic genetic variant may cause a disease is relatively low, about 7 percent. However, some variants are linked to wide range of risks for disease.
A DNA sequencing study of 50 patients with cerebral palsy found a genetic cause in 26% of cases. The study identified 13 different genes associated with the condition. Genetic findings led to changes in patient care plans and urged clinicians to consider genetic causes for CP without known risk factors.
A new study published in Mammalian Biology analyzed the life history data of 13 North Atlantic right whales using genetic samples and photo identification. The researchers found that four calves previously thought to be dead survived, revealing a significant variation in calf separation time from mothers and physical development.
A recent study published in Science Translational Medicine identified a novel causative gene, BAG5, for dilated cardiomyopathy, a leading cause of heart failure. The researchers found that mutations in this gene can lead to cardiomyopathy and found a potential treatment alternative using adeno-associated viruses (AAV) gene therapy.
A new machine learning model, RefMap, has identified 690 genetic risk factors for motor neurone disease, a five-fold increase from previous estimates. This discovery could lead to the development of new treatments and personalized medicine for patients with MND.
Researchers found that flavanols activate brown adipose tissue, causing it to burn calories and produce heat. Long-term consumption of flavanols increased the levels of heat-related proteins in mice, suggesting a potential therapeutic effect against obesity-related diseases.
A large field hospital study shows that a rapid Covid-19 test is as accurate as PCR detection, with high sensitivity rates for both symptomatic and asymptomatic patients. The rapid antigen test's ease of use, time savings, and cost effectiveness make it an ideal solution to reduce testing disparities in medically underserved communities.
A Michigan Medicine study combined genetic samples from patients of different ethnic backgrounds, identifying two new psoriasis genetic signals. The inclusion of South Asian subjects allowed researchers to pinpoint several genetic variations within HLA genes that are likely to play a causal role in psoriasis.
Researchers genetically mapped the cell types of the mouse iris, revealing four new cell types and mapping genetic changes that occur when the iris dilates. This research may help connect genetic similarities between mice and humans, offering clues for developing new diagnostic tests and treatments for eye diseases.
A study found that many IVF embryos with chromosomal abnormalities have the potential to lead to successful pregnancies. Embryos with low-grade mosaicism had similar live birth rates and miscarriage rates as euploid embryos.
A world-first study published in the New England Journal of Medicine found that whole genome sequencing can uncover new diagnoses for people with rare diseases. The pilot study analyzed 4,660 individuals and found a new diagnosis for 25% of participants, including 14% not detectable by other conventional methods.
A new study finds that genetic testing for cardiomyopathies and arrhythmias simultaneously can detect conditions more accurately than single-condition tests. This leads to better diagnosis and treatment options, such as targeted therapies and monitoring devices.
A new study found that whole genome sequencing increases the diagnosis of rare genetic disorders by 31%, shortening the diagnostic odyssey for affected families. This approach provides opportunities for future research and can identify non-mitochondrial disorders with specific treatments.
Researchers developed a viral panel that enables simultaneous testing for SARS-CoV-2 and common respiratory viruses, providing insight into coinfections and viral spread. The tool helps predict and mitigate future outbreaks by tracking novel viral variants and their patterns of spread.
Scientists at the University of Colorado School of Medicine have identified specific genetic biomarkers in blood samples that can indicate the severity of COVID-19. The study's findings suggest that these signals can be used to monitor SARS-CoV-2 status and predict clinical outcomes.
A randomized controlled trial found that adding genotypic resistance testing to routine care didn't improve virologic suppression among HIV patients with first-line antiretroviral therapy failure in public-sector clinics in Uganda and South Africa. The findings highlight the need for effective interventions for persons with virologic f...
Researchers found that as icebergs melted, vegetation became scarce, making it difficult for the giant animals to survive. The team analyzed ancient environmental DNA and sequenced plant remains to draw globally significant conclusions.
Researchers use handheld devices resembling ray guns to record how plant leaves reflect different wavelengths of light, revealing genetic variation within species. This new method is faster and cheaper than genetic testing, increasing efficiency in mapping and monitoring biodiversity.
A genomic study revealed causative gene variants for inherited retinal dystrophies (IRDs) in diverse populations, with significant findings for Mexican, Pakistani, and European American participants. The study identified new gene variants and mutations contributing to IRDs, shedding light on disease variation and presentation.
A group of researchers led by Indiana University School of Medicine's Benjamin Gaston will receive a research program project grant to fund the development of personalized therapeutic approaches for severe asthma. The grant will support three key projects focused on S-nitrosylation signaling, airway pH regulation, and androgen signaling.
A new study identifies 13 genes as key factors in shaping physical fitness through various forms of exercise. Genetic differences account for up to 72% of the variation in muscle strength improvements.
Researchers used CRISPR-Cas9 technique to edit genes in zebrafish larvae, altering individual behavioral responses and group behavior. The study suggests two simple visuomotor reflexes explain the collective behavior of zebrafish.
Researchers at the Leibniz Institute for Food Systems Biology have identified the 'caramel receptor', which recognizes furaneol, a natural odorant found in fruits and coffee. This discovery contributes to a better understanding of molecular coding of food flavors.
The USC Stevens INI is partnering with Vanderbilt University Medical Center and the University of Miami to merge Alzheimer's disease data from over 30 datasets, producing a large-scale, standardized set of clearly defined data. This harmonization will enable large-scale machine learning analysis to better characterize the genetic basis...
The National Kidney Foundation has released a research roadmap to accelerate innovations in treatment and increase understanding of kidney disease. The report calls for increased funding in preclinical science, genetics, health equity, and implementation science to tackle the most vexing challenges in kidney disease.
A UCL-led research team has discovered a new gene causing hypertrophic cardiomyopathy, an inherited heart condition. The study found that variants in the ALPK3 gene are responsible for 1-2% of adults with the condition, affecting approximately 1,250-2,500 people in the UK.
Researchers at Kaiser Permanente identified a blood cystatin C test as an alternative to estimate kidney function, eliminating the need for racial considerations. The study showed that this approach produces similarly accurate results and may promote equity for people of all racial and ethnic backgrounds.
A new study has identified unique genetic codes in the placenta that could detect pregnancy complications earlier than current tests. The researchers found specific biomarkers in maternal blood that indicate placental health and fetal well-being, allowing for real-time assessment throughout pregnancy.
A Mount Sinai study found that polygenic risk scores were no better at predicting worsening symptoms than written reports in schizophrenia patients. The results raise questions about the use of polygenic risk scores in real-world situations, suggesting a doctor's report may be an untapped source of predictive information.
Researchers have identified a novel genetic marker, rs139185008, that distinguishes C9orf72 repeat expansion carriers from non-carriers in large population-based cohorts. This SNP is strongly associated with patients having a clinical diagnosis of FTLD and motor neuron disease ALS.
A new method for diagnosing celiac disease using saliva has been developed by researchers from the University of the Basque Country. This non-invasive approach can considerably reduce the number of endoscopies needed, making it a useful tool for screening patients suspected of having celiac disease.
Researchers have developed a new integrative genetic test, LYNX, that analyzes standard and novel molecular markers in common lymphoid neoplasms. The test provides accurate detection of mutations, identification of large genome-wide chromosomal aberrations, and assessment of immunoglobulin and T-cell receptor gene rearrangements.
A new study by Mayo Clinic researchers suggests that most women with breast cancer diagnosed over 65 should be offered hereditary cancer genetic testing. The study found mutations in actionable breast cancer risk genes in 3.2% of women with breast cancer, highlighting the need for broader testing regardless of age or family history.
A study led by D. Ross Camidge found that MET amplification drives a rare subtype of non-small cell lung cancer, which responded to crizotinib therapy. The research also highlights the importance of MET amplification testing and therapies for this unique patient population.
A new genetic test for glaucoma has been found to identify high-risk patients 15 times more effectively than an existing test. The test, which can be performed on a blood or saliva sample, has the potential to detect irreversible vision loss before it occurs.
A new study published in Circulation: Genomic and Precision Medicine Journal found that teenagers knowing the results of their cardiomyopathy genetic tests do not harm family relationships or function. In fact, most adolescents were glad to receive their test results, suggesting improved mental health outcomes.
Researchers discovered a novel neurological disorder caused by spontaneous mutations in the RNF2 gene, leading to symptoms such as intellectual disabilities, seizures, and feeding difficulties. The study, led by Dr. Shinya Yamamoto and Dr. Vandana Shashi, found that loss-of-function variants in RNF2 disrupt normal neuronal development ...
Researchers at UC Davis discovered that a cat's DNA influences its response to clopidogrel, a common medication for hypertrophic cardiomyopathy (HCM) in cats. Nearly 20% of cats showed resistance to the therapy, highlighting the need for personalized medicine.
Researchers developed transgenic strains of Drosophila suzukii that produce only males, using a common antibiotic as an off switch. The study found that releasing excess transgenic males into laboratory cage trials effectively suppressed female offspring.
A new study suggests that AI can visually distinguish between euploid and aneuploid embryos based on their cell activity, potentially removing the need for cell biopsy in embryo testing. The AI-based system achieved 73% sensitivity and specificity in its results, offering a fast and economical alternative to current non-invasive methods.