Articles tagged with Genetic Testing
A research team developed a novel blood test called desNIPT to screen pregnant women for genetic diseases in their unborn children. The test has demonstrated effectiveness in identifying alterations in fetal genes, similar to invasive procedures like chorionic villus sampling or amniocentesis.
The Association for Molecular Pathology published a report outlining considerations for a slice testing strategy, including gene selection and quality. This approach combines the advantages of high-quality gene panels with flexibility and broad scope of exome sequencing.
A new study found that one in six elite athletes have reduced heart function and an enrichment of genes associated with heart muscle disease. The research highlights the need for closer monitoring of these athletes' heart health, as their genetic makeup may be 'stressed' by exercise to cause profound heart changes.
Researchers developed a framework to identify genetic contributors to disease by applying stress tests to human blood cells. This study found links between blood-response characteristics and subsets of common diseases.
A new study suggests that genetic testing for depression could lead to significant cost savings and improved patient outcomes. The test, known as pharmacogenomic testing, can help match patients with medications that are more likely to be effective and cause fewer side effects.
The study demonstrates that concurrent DNA and RNA sequencing improves the detection of novel variants in individuals undergoing hereditary cancer testing, expanding identification of those with hereditary cancer predisposition. This advancement enables personalized therapeutics and surveillance for these individuals.
The LoCKAmp device uses lab-on-a-chip technology to detect Covid-19 and other pathogens in just three minutes, providing rapid and accurate results. The device has the potential to be used in remote healthcare settings and could also detect conditions like cancer.
A study by Queen Mary University of London reveals that trust is the key factor in British South Asians' participation in genetic testing. Participants emphasize the importance of General Practitioners (GPs) as trustworthy professionals and personalized prescribing with genetic information to enhance trust and medication adherence.
A new method extracts DNA from cat hair, linking suspects and crime scenes, with potential applications in dog cases too. Researchers found a single cat hair contains usable DNA, which can be sequenced for a more powerful link.
Researchers developed a new epigenetic clock that accurately measures biological aging in healthy and unhealthy tissue, outperforming current clocks. The Glasgow-Karolinska Clock showed promise in assessing the impact of chronic kidney disease on aging, even after dialysis treatment.
A phase 2 clinical trial found that serial blood tests can identify patients who benefit from additional immunotherapies, suggesting a potential early marker of treatment response. The study also showed that ctDNA analyses correlated with tumor size and survival, making it a promising strategy for guiding therapy.
A new national ALS research consortium, Access for All in ALS, has been launched with a $16.7 million NIH award. The consortium will include 34 clinical sites nationwide and generate a longitudinal biorepository linked to detailed clinical information.
The study analyzed 10,000 gene expression signatures to assess their prognostic ability, finding that they lead to accurate patient prognosis in no more than 80% of cases. The researchers emphasize the need for a comprehensive approach incorporating molecular, clinical, histological, and other factors to ensure an accurate prognosis.
A new study found that precision medicine navigators can significantly increase genomic testing rates for Black patients with prostate cancer. Genomic testing is used to gauge the likelihood of cancer metastasis and has been shown to be more accurate than traditional tests in predicting treatment outcomes.
Researchers at Rice University have developed a non-invasive gene delivery technique using ultrasound to efficiently deliver clinically used gene therapy vectors throughout the brain. The study, published in Gene Therapy, shows that opening more sites within targeted regions improves gene delivery efficiency.
A study by the University of Helsinki has identified two genetic risk factors, RNF207 and PRKAA2, that contribute to dilated cardiomyopathy in both humans and Dobermanns. The research offers a new perspective on the disease and may lead to the development of early diagnostic tests for breeders.
The new guidelines provide a framework for genetic testing and counseling, recommending comprehensive testing and gene-targeted therapies for all persons with ALS. The guidelines aim to improve access and standardize practice among neurologists and genetic counselors.
North Carolina State University researchers successfully transferred an important gene from one compartment of a plant cell to another, producing tobacco plants that lack pollen and viable seeds. The findings could lead to better ways of producing hybrid seeds to maximize crop productivity.
Scientists have detected new strains of malaria-causing parasites in Ethiopia that are resistant to current treatments and escape detection by common diagnostic tests. The prevalence of these double-resistant parasites is a concern for malaria control and elimination efforts in Africa, where the disease remains endemic.
Researchers found that patients with HPV-positive cancers develop recurrent disease significantly later than those that were HPV-negative, and also are more likely to spread to the lungs. A new, highly sensitive blood test has been developed to detect cancer earlier, using a framework for combining routine blood testing and imaging.
The study presents a pioneering detection tool that combines molecular biology and electronics to identify various pathogenic agents. The technology has demonstrated remarkable sensitivity detecting as few as 10 target molecules and rapid results under one hour.
Researchers found that pregnant mice experiencing copy number variation (CNV) showed similarities to aging, with biomarkers and genetic effects appearing during pregnancy and reversing after delivery. This study aims to revolutionize aging treatment by investigating the mechanisms behind post-labor rejuvenation.
Researchers developed a molecular test to identify brain tumors by analyzing genetic material in cerebrospinal fluid. The Real-CSF test correctly identified 67% of cancerous and 96% of noncancerous brain lesions, outperforming standard cytology methods.
A promising molecular diagnostic tool uses a single biomarker to detect primary bladder cancer in patients with hematuria, showing high sensitivity and accuracy. The noninvasive test offers advantages such as shorter turnaround time and efficient analysis of results.
A recent study reveals that past climate changes and vegetation shifts played a key role in determining when and where early human species interbred. The research suggests that the overlap of habitats led to increased encounters and interactions among groups, increasing the chance of interbreeding.
The GEMINI blood test uses machine learning to identify cancer-causing mutations in single molecules of cell-free DNA. The test detected over 90% of lung cancers, including stage I and II cases, in a proof-of-concept study published in Nature Genetics.
Researchers are studying the characteristics of fragile X-associated tremor ataxia syndrome (FXTAS), aiming to develop treatments for this debilitating condition. The study focuses on understanding the phenotype of FXTAS, including its progression and impact on males and females.
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 found that increasing dietary restraint can counteract the effects of obesity risk genes, particularly for disinhibition and hunger. The study suggests that flexible strategies such as mindful eating can be as effective as rigid calorie counting in improving BMI in genetically at-risk individuals.
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 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 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 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.