Articles tagged with Genetic Testing
The US Multisociety Task Force on Colorectal Cancer recommends genetic evaluation and personalized surveillance plans for patients with hamartomatous polyps. Genetic testing is critical in cancer prevention, allowing for tailored cancer surveillance to prevent progression and save lives.
A study found that 12% of recurrent ductal carcinoma in situ (DCIS) cases were new primary lesions unrelated to the original tumor. These findings suggest that genetic biomarkers for predicting recurrence may not be effective for all patients.
Researchers analyzed genomic profiles of over one million cells from 1,000 people, identifying a link between specific genes and immune cell types in autoimmune diseases. The discovery could lead to tailored treatments and refine clinical trials.
The Victoria's Secret Global Fund for Women's Cancers has awarded five female researchers for their groundbreaking work on breast and gynecologic cancers. The recipients will receive a $100,000 honorarium and be invited to participate in a broader women's cancers grant program.
A recent study published in Translational Psychiatry found that pharmacogenetic testing significantly improved symptoms in patients with treatment-resistant depression. The study involved 276 patients and showed a nearly two-fold increase in remission rates compared to treatment as usual.
A report by the British Pharmacological Society and Royal College of Physicians recommends integrating pharmacogenomic testing to ensure medicines work safely and effectively for individual patients. The UK is a world leader in genomic medicine, and expanded testing would further demonstrate this leadership.
A recent brain imaging study has found evidence of weakening connections between key brain areas in adolescents at high genetic risk of developing bipolar disorder. This study suggests that early intervention strategies may be effective in preventing the progression towards major changes in the brain.
Carly Peterson, a genetic counseling graduate student, received the 2022 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award. Her platform presentation explored parenting stress in raising children with sex chromosome aneuploidies, using data from the eXtraordinarY Babies Study.
The ACMG Foundation presented four Next Generation Fellowship Awards to outstanding individuals in medical genetics and genomics. Ibrahim Elsharkawi and Jessica Priestley received the awards for their dedication to biochemical genetics, with support from Bionano Genomics, Spark Therapeutics, Takeda, Sanofi-Genzyme, and Pfizer.
Dr. Kushani Jayasinghe, a nephrologist and trainee in clinical genetics, received the 2022 Richard King Award for her article on genomic testing in patients with suspected monogenic kidney disease. The award recognizes high-quality research published in Genetics in Medicine by trainees.
A new study confirms that abnormalities in the GDF15 gene are involved in hyperemesis gravidarum, a condition causing severe nausea and vomiting during pregnancy. The discovery may lead to targeted treatments and improved care for women with HG.
A study has decoded the DNA of the Arabian Oryx, a vulnerable species that was on the brink of extinction. The researchers analyzed the genetic data to inform breeding programs and found moderate diversity in the population's gene pool.
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.