Articles tagged with Genetic Testing
The 'Ivory Lady', a Copper Age individual from Iberia, is re-dubbed as the highest status woman in ancient society. Peptide analysis revealed that she held a high social status through merit and achievements.
Researchers have developed a technology to capture and release cell-free DNA from urine using nanowire surfaces, successfully detecting IDH1 mutation in glioma patients. This method opens possibilities for the detection of other tumor mutations and could revolutionize cancer diagnosis.
A Mayo Clinic study evaluated 1,152 patients with rare diseases using genomic testing, determining or likely determining the cause of disease in 17.5-66.7% of cases. This led to changes in medical approaches for 42.7% of patients, improving patient care and diagnosis.
The American College of Medical Genetics and Genomics has released its updated Secondary Findings Gene List (SF v3.2) with three new cardiovascular genes added, including CALM1, CALM2, and CALM3. The list provides guidance on reporting incidental findings in clinical exome and genome sequencing.
Researchers at Washington University School of Medicine developed a catalog to classify protein variants associated with limb girdle muscular dystrophy. The approach enables doctors to determine the pathogenicity of variants, leading to more precise diagnoses and potential therapies.
Researchers developed Eye2Gene, an AI system that accurately identifies genetic causes of inherited retinal diseases from retinal scans. The system achieved higher accuracy than human experts in identifying causative genes, with a ranking score above 70% in over 70% of cases.
A recent study found that germline genetic testing after cancer diagnosis is underutilized, with rates significantly lower among Asian, Black, and Hispanic patients compared to non-Hispanic whites. The study, published in JAMA, suggests disparities in access to genetic testing by race.
Researchers successfully demonstrate AAV vector efficacy in aged animal models, showing robust hearing rescue in mice with a mutation equivalent to a defective human gene. The study suggests that virally mediated gene therapy could potentially treat genetic hearing loss, especially for patients diagnosed at advanced age.
Scientists have discovered that increasing expression of the RIT2 gene reduces alpha-synuclein accumulation and protects neurons from cell death in Parkinson's disease. This breakthrough offers hope for developing a simpler intervention to reduce risk of the disease.
Researchers used machine learning to identify 'synthetic extreme' DNA sequences that are active in humans but not fruit flies. These rare sequences have potential practical applications in biotechnology and biomedical research.
A recent study published in Nature challenges traditional views on human origins in Africa, proposing that modern humans emerged from the interaction of multiple populations across the continent. By analyzing genomic data from diverse African groups, researchers found evidence of gene flow and mixing over hundreds of thousands of years.
Researchers have identified 11 somatic mutations in the RAS/MAPK pathway that contribute to treatment-resistant adult epilepsy, suggesting the potential for repurposed anti-cancer agents as new treatments. This study provides insight into the genetic mechanisms underlying this form of epilepsy and opens up new avenues for targeted ther...
A molecular autopsy revealed that a young child with mild COVID-19 symptoms died from cardiac arrest due to an atypical coronary artery anomaly and underlying Noonan syndrome, a rare genetic disorder.
The American College of Medical Genetics and Genomics (ACMG) has published a statement addressing factors that contribute to bias in clinical genetic testing. The statement highlights three main areas: environmental, clinical, and technical biases, which affect health equity for individuals from historically marginalized populations.
Researchers at MIT have found a way to reverse neurodegeneration and symptoms of Alzheimer's disease by interfering with an overactive brain enzyme called CDK5. The peptide treatment reduced neurodegeneration, DNA damage, and improved behavior in mice with Alzheimer's.
A nationwide UK research study has diagnosed around 5,500 children with severe developmental disorders, identifying the genetic cause of their condition. The Deciphering Developmental Disorders study used genomic sequencing technology to provide diagnoses for families from across the UK and Ireland.
Tulane University researchers discovered a possible genetic cause of hypermobility and hypermobile Ehlers-Danlos syndrome, linking it to folate deficiency due to the MTHFR gene variation. Elevated folate levels in blood tests can aid in diagnosis, while methylated folate has shown promising treatment results for patients.
Researchers at the University of Illinois have identified a novel class of ribosomal peptides called daptides, which exhibit hemolytic activity. This discovery opens up new avenues for therapeutic development and highlights the vast potential of undiscovered RiPP classes.
A recent study by the University of Exeter has confirmed the widespread trading of critically endangered European eels in international markets. The research found that about 40% of North American unagi samples contained European eel, suggesting a significant role for illegal trade in their supply chain.
A rapid genetic testing model identified pathogenic variants in 51 patients with advanced prostate cancer, leading to discussions of possible treatment changes for 22 patients. The streamlined approach detected actionable gene variants eligible for newer targeted therapies in nearly half of patients with these variants.
Researchers at Medical College of Georgia identified an increased prevalence of disease-causing genetic variants in females with unexplained infertility. The study found that 17% of these women had gene variants known to cause heart problems and cancer.
Sarah Jurgensmeyer, MS, CGC, received the 2023 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her platform presentation on increasing access to pediatric genetic services. The award recognizes the increasingly important role of genetic counselors in clinical genetics and genomic medicine.
A new urine gene test can detect genetic mutations in urine that predict bladder cancer up to 12 years in advance of clinical symptoms. The test was trialled on over 50,000 participants and showed promising results, suggesting its potential for early detection and reduced unnecessary invasive procedures.
A recent study published in JNCCN found that the lack of genomic research for people with African ancestry is hindering efforts to reduce disparities in prostate cancer outcomes. The researchers evaluated molecular genetic results for 113 Black South African men diagnosed with advanced prostate cancer, identifying 17 pathogenic and pot...
A Geisinger study supports genetic testing as a standard of care for people with cerebral palsy, similar to other neurodevelopmental disorders. The analysis found similar genetic diagnostic yield for CP and NDD, suggesting earlier identification of genetic changes and potential treatment through genetic testing.
A recent study found that metformin users had distinct DNA methylation profiles compared to non-users, potentially revealing its role in longevity. The research identified several pathways related to delirium and aging, highlighting the need for further investigation into metformin's mechanism of action.
Researchers at Duke-NUS Medical School have devised a way to rapidly and precisely measure the length of a single telomere, opening doors to developing lifestyle interventions that slow ageing and prevent disease. The novel approach uses DNA sequences called 'telobaits' to latch onto the ends of telomeres in large pools of DNA fragments.
A new machine learning model combines fusion gene profiling, serum PSA level, and Gleason score to predict prostate cancer recurrence with improved accuracy. The model outperformed clinical data alone and provided valuable insights into the mechanism of disease progression.
A study by University of Gothenburg researchers identifies two distinct types of cod, 'offshore cod' and 'coastal cod', genetically adapted to different environments. The coastal cod remain in the fjords, but their adult stage is uncertain, with possible spawning locations still unknown.
A team of researchers discovered that a mutation in the HMGB1 protein causes a rare disorder with severe malformations, suggesting a link between protein droplets and genetic disease. The study's findings could have implications for understanding congenital malformations, common diseases, and cancer.
Researchers evaluate an integrated NGS system, delivering accurate diagnoses in under 24 hours and expanding targeted treatments available to patients with myeloid neoplasms. The assay identified 80-92% of genetic variants, demonstrating promising results for accelerating precision therapies.
Researchers found that breeds genetically closer to wolves are more prone to reply with howls, while modern breeds bark instead. Older dogs over 5 years also show increased stress-related behaviors when howling.
A single test can now identify all three genotypes of the Infectious Spleen and Kidney Necrosis Virus (ISKNV), a deadly virus that primarily affects fish. The development of this test has significant implications for fisheries and aquaculture, as ISKNV poses a substantial threat to these industries.
Researchers at Cedars-Sinai Cancer have developed a non-invasive test that can detect and profile prostate cancers in microscopic amounts. The test, known as the EV Digital Scoring Assay, has the potential to spare patients from unnecessary treatment-related side effects and direct them to effective therapies.
A decade-long study found that a healthy lifestyle, including a healthy diet, regular exercise, and cognitive activity, slows memory decline in older adults. Participants with the APOE gene, associated with Alzheimer's disease, also experienced slower memory loss.
Researchers have discovered an anti-ageing gene that can rewind the heart's biological age by 10 years, offering a potential target for patients with heart failure. The study found that administering the healthy mutant gene to elderly patients with severe heart problems improved their cardiac function and rejuvenated their immune system.
Research from Brigham and Women's Hospital found that genetic analysis can identify up to 65% more A2 donors, increasing potential kidney transplants for recipient candidates with blood type B. This could improve availability and equity in kidney transplantation.
A new genetic test has been developed to identify ovarian cancer patients who benefit from PARP inhibitors, a treatment option with significant improvements in prognosis. The test has been optimized for the Finnish population and is clinically approved, allowing for targeted treatment and reduced adverse effects.
Researchers found that MMTV-NeuT/ATTAC mice treated with anti-PD-1 therapy developed increased tumor-associated macrophages, EMT, fibroblast proliferation, and enhanced extracellular matrix. These findings suggest potential therapeutic avenues to enhance PD-1 immune checkpoint sensitivity.
A new AI algorithm, STORK-A, can predict IVF embryo viability with 70% accuracy, reducing the need for invasive genetic testing. The algorithm analyzes microscope images of embryos and incorporates information about maternal age and IVF clinic scoring to detect aneuploidy.
Researchers discovered that Dis1 protein promotes microtubule shortening in fission yeast through catastrophe, a process where growing microtubules suddenly shorten. This finding challenges the conventional view of microtubule stabilization and has long-term applications for therapy and artificial cell segregation.
A recent analysis of Psychiatric Genomics Consortium datasets found genetic correlations between psychiatric disorders differ between European and East Asian populations. Japanese psychiatrists tend to diagnose bipolar disorder less frequently in patients with psychotic features.
A global registry for gene-drive modified organisms could facilitate transparent communication, monitor ecological impacts, and inform local decision-making. Experts agree that a registry is necessary for the fair development, testing, and use of gene-drive technologies.
Researchers investigate how lung cancers evade the immune system to develop more effective immunotherapy treatments. The study aims to uncover a new way lung cancers disguise themselves from the immune system, potentially leading to improved treatment outcomes.
A comprehensive genetic testing protocol increased patient compliance with recommended testing from 33.3% to 98.7%, while also reducing turnaround time for genetic test results.
A Northwestern University study found that as people age, their cerebrospinal fluid immune system becomes dysregulated, leading to cognitive impairment and neurodegeneration. The discovery provides a new clue to the process of neurodegeneration and may potentially be used to treat inflammation of the brain.
Researchers discovered that cabbage white butterfly caterpillars use two complementary enzymes for detoxification, allowing them to adapt to various cruciferous plants. The NSP and MA enzymes differ in their capacity to process different glucosinolates, enabling the caterpillars to fine-tune their detoxification mechanisms.
Research by Uppsala University and Swedish University of Agricultural Sciences links atopic dermatitis in dogs to specific genome regions. The study identifies genes coinciding with human atopic eczema, including the filaggrin gene region.
A study found that genetic variants near ERAP2 and TICAM2 provided protection against Yersinia pestis, the bacterium responsible for the Black Death. These variants were also associated with improved detection and resistance to other pathogens, but at a cost: increased risk of autoimmune disorders like Crohn's disease.
Research emphasizes the importance of ethnically diverse prostate cancer genomics data and accessible genetic testing. Variations in genomic landscape of prostate cancer were observed in Chinese men compared to Western cohorts, with lower mutation rates in driver genes such as TP53 and PTEN.
A genetic test known as chromosomal microarray analysis (CMA) may be able to identify the cause of Sudden Infant Death Syndrome (SIDS) or its counterpart in older children, known as Sudden Unexplained Death in Childhood (SUDC). CMA identified deletions or duplications of DNA segments in 14% of deceased infants and toddlers up to 28 mon...
Researchers discover exceptional individual with 12 tumors, shedding light on early detection methods and immune system response. Single-cell analysis technology shows promise in identifying cells with tumor potential before symptoms appear.
Researchers at MIT have developed a new control system for synthetic genes that can precisely regulate protein production in mammalian cells. The system uses CRISPR proteins to activate target genes and can be tuned to produce specific quantities of proteins, such as monoclonal antibodies.
Researchers at Rice University have developed a procedure to quantify unintended changes that accompany on-target CRISPR-Cas9 gene editing, potentially threatening the efficacy and safety of therapies. The new method uses single-molecule sequencing with unique molecular identifiers to detect large deletions, insertions, and chromosomal...
A novel genetic analysis by University of Ottawa researchers reveals that climate change could lead to an increased risk of viral spillover in the High Arctic. This increased risk may result in new viruses infecting previously uninfected hosts, potentially leading to emerging pandemics.
A recent study identifies a specific gene, GNL3, that regulates neural proliferation in response to lithium, which is used to treat bipolar disorder. This gene plays an important role in brain function and has been implicated in risk for bipolar disorder, schizophrenia, and inter-individual variations in intelligence.
A recent poll reveals that 48% of people aged 50-80 have purchased at least one home health test, including COVID-19 and DNA tests. Notably, 82% of older adults express interest in future medical tests at home, while 90% agree to share results with their healthcare provider.
Researchers discovered that plasmids can linger in the nose of lab workers for weeks, interfering with clinical diagnostic tests. The study highlights the importance of considering occupational exposure in diagnosis and treatment.
Researchers have developed genetic testing to diagnose cardiomyopathy in children, identifying those at risk of heart failure and requiring a transplant. The test provides precise clinical diagnosis, enabling targeted treatment options and reducing the need for life-threatening interventions.
A new variant of adeno-associated virus (AAV) shows significant improvement in delivering gene therapies to the central nervous system (CNS), potentially treating brain cancers and genetic diseases. The AAV variant, identified as CPP.16, demonstrates enhanced delivery efficiency across the blood-brain barrier in preclinical models.