Articles tagged with Genetic Testing
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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.
The Vigilant platform combines reverse transcription-recombinase polymerase amplification (RT-RPA) with bacterial enzymes to detect SARS-CoV-2 gene sequences. This method produces comparably reliable results as PCR tests but is cheaper and easier to use, making it suitable for non-laboratory settings.
A new study of nearly 30,000 patients found that Black and white women have the same prevalence of genetic mutations associated with breast cancer risk. Younger age and ER-negative breast cancer were identified as risk factors in genes including BRCA1 and BRCA2.
Scientists have identified two brain areas involved in tracking uncertainty about unwelcome events, such as negative news. The anterior cingulate cortex and ventrolateral prefrontal cortex were found to encode information about attitudes toward good and bad possibilities separately.
A new study has found that genes involved in inflammation and white blood cell activity are upregulated in divers with decompression sickness, also known as the bends. This discovery may lead to a more precise diagnostic test for the condition.
Researchers at Vanderbilt University Medical Center developed a predictive model to identify patients who may benefit from genetic testing based on routine information in electronic health records. The model accurately classified over 87% of cases and 96% of controls, and identified potential patients with rare undiagnosed diseases.
A recent study by the American Chemical Society tested five at-home rapid tests, finding they were relatively easy to use with accurate results compared to lab testing. The cost and access to these tests are concerns, but community programs can help offset costs and build trust in testing.
The new test combines electrochemical biosensors with engineered protein constructs to detect coronaviruses with high precision. It can be used on unprocessed blood or saliva samples, making it a game-changer for containing the COVID-19 pandemic.
A simple diagnostic tool has been developed to predict the individual risk of developing Alzheimer's disease with over 90% accuracy. The algorithm combines data from a simple blood test and brief memory tests, and has been shown to be significantly more accurate than clinical predictions by dementia experts.
Researchers at Harvard Medical School analyze the genetic makeup of gut bacteria and find links to various diseases including coronary artery disease, inflammatory bowel disease, and liver cirrhosis. The study identifies groups of bacterial genes that can predict disease risk or identify presence, paving the way for developing tests.
A team of scientists at Stanford University and Cincinnati Children's have found a potentially effective compound, AG1296, to treat pulmonary arterial hypertension (PAH). The compound was identified using human, PAH-specific stem cells as a drug screening platform.
Researchers at Duke University Medical Center developed a gene expression method that can quickly identify the source of respiratory symptoms. The test has been shown to be accurate in distinguishing between viral and bacterial infections, with results available in under an hour, improving clinical care.
Researchers at the University of Minnesota Medical School discovered a novel gene, JAG2, associated with a specific form of muscular dystrophy. The study found a distinct pattern of abnormalities on muscle MRI that may aid in identifying patients with this condition.
The ACMG Foundation has awarded the 2021 Carolyn Mills Lovell Genetic Counselor Award to Adrienne Bailey and Renee S. Jones, acknowledging their exceptional work in genetic counseling. The award recognizes their platform presentations on innovative approaches to patient education and genetic testing.
Researchers at Ohio State University found COVID-19 virus genetic material persists in dust for up to a month, suggesting it could be used to monitor outbreaks. The study suggests dust monitoring could offer an alternative method to wastewater testing, particularly in high-risk communities.
A new test for Lyme disease has been developed to reliably distinguish between early- and late-stage patients. The test targets genetic sequences left by a virus in Lyme-causing bacteria and can detect as few as one bacterial cell in a small blood sample, making it highly sensitive.
A new genetic test has been developed by U of M researchers to identify Palmer Amaranth, which can cause significant yield loss in corn, soybean, and cotton crops. The test, which shows 99.9% accuracy, could be commercially available by the end of 2021.
The B.1.1.7 variant of COVID-19 is spreading rapidly in the US, with a 40-50% increase in transmissibility compared to previous dominant variants. The analysis suggests that future case numbers and mortality rates will be higher than expected.
Researchers at Nanyang Technological University have developed a VaNGuard test that can detect the virus causing COVID-19, even with mutations. The test uses gene-editing tool CRISPR and yields results in 30 minutes, making it faster and more affordable than traditional tests.
A UK study found that the SARS-CoV-2 variant B.1.1.7 spread rapidly in care homes across England, reflecting its rapid growth in the general population. The proportion of infections caused by this variant increased sharply between late November and December, with a notable rise among older residents.
A new study shows whole genome sequencing is at least as accurate and often better than conventional genetic tests for determining blood cancer treatment. The study found that sequencing identified additional genetic abnormalities in 17% of cases, changing the risk category for 19 patients.
Researchers analyzed 18,463 Finnish samples to track genetic ancestry from 1923 to 1987. The study found significant changes associated with WWII and urbanization, capturing a detailed history of Finland's population in space and time.
Researchers at Mayo Clinic have combined a functional test with clinical information to determine the clinical importance of BRCA2 gene variants of uncertain significance. The findings improved reclassification rates for VUS from 10% to 86%, enabling more accurate patient care and targeted therapy options.
A large-scale study published in the BMJ found that genetic testing technology widely used by commercial companies is unreliable in detecting very rare variants. The study analyzed data from nearly 50,000 people and found that the technology produced false positive results for rare disease-causing genetic variants in over 80% of cases.
A USC-led study finds that Native Hawaiians with more Polynesian ancestry are at higher risk for type 2 diabetes, heart failure, and obesity. The study analyzed the genomes of 3,940 Native Hawaiians and found an 11% increase in heart failure risk per 10% increase in Polynesian ancestry.
A new study provides insights into the treatment of Christianson syndrome, a genetic brain disease characterized by reduced brain growth and intellectual disability. Researchers successfully tested two main forms of treatment on stem-cell-derived neurons, finding that gene transfer was effective in neurons with nonsense mutations, whil...
A new gene panel test developed by researchers allows for highly accurate diagnosis of liposarcoma types, distinguishing them from benign tumors and other cancers, with a success rate of 93% and costs of US$270 per case.
Researchers discovered a strong link between genetic changes and cerebral palsy, which often co-occurs with other neurodevelopmental disorders. The study identified disease-causing changes in 229 genes, decreasing the risk of recurrence for future children born to affected parents.
Researchers have found a new type of genetic change in people with hypertrophic cardiomyopathy (HCM), which can cause sudden death. This discovery will help doctors predict which family members need to be monitored and which can be ruled out from further tests.
The INTERVENE project aims to develop novel genome-based disease prediction tools using advanced AI approaches on genomic and health data. The project will test these tools in clinical settings for cardiovascular diseases, type 2 diabetes, and breast cancer.