Articles tagged with Medical Genetics
A new study analyzing 86,000 Norwegian children found that the association between parental body mass index (BMI) and childhood BMI is largely explained by shared genetics. Genetic effects accounted for an estimated 79% of the statistical association between a mother's BMI and her child's BMI at age 8.
Scientists have identified a unique chimeric RNA called UBA1-CDK16 that plays important roles in women's blood cell development and disease severity. The findings suggest the chimeric RNA may serve as a natural brake to protect women from excessive autoimmune activity.
Researchers discovered Paneth cell metaplasia can act as a protective response in ulcerative colitis by promoting healing and regeneration of the intestinal lining through REG3A. However, persistent changes may still carry risks, including increased cancer risk.
A large-scale Phase 3 trial of CRISPR therapy has shown an 87% reduction in attacks for patients with hereditary angioedema. The treatment also improved quality-of-life scores and reduced the need for on-demand medication, paving the way for future genetic therapies.
Researchers describe a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, resulting in severe lung disease. The disorder presents with early onset respiratory distress, lung abnormalities, and developmental delay but no epilepsy.
A new report describes a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, resulting in severe lung disease. The study identified five individuals from four unrelated families with similar symptoms of early onset respiratory distress, lung abnormalities, and developmental delay.
The HUG-CELL project aims to identify couples at risk of transmitting recessive genetic disorders and Fragile X syndrome. The initiative will create a large genetic database for Brazil to determine the prevalence of hereditary genetic diseases and develop 'risk calculators' based on the diversity of the Brazilian population.
Researchers at UT MD Anderson Cancer Center have made significant advances in understanding cancer biology, developing AI-powered atlas of tertiary lymphoid structures as prognostic biomarkers, and uncovering drivers of resistance to KRAS inhibitors. Additionally, they have discovered a molecular pathway that drives stressed cells to b...
The study found that population-based pathogenic variant testing reveals different subsets of high-risk women than clinical risk factors and polygenic risk scores. This highlights the importance of incorporating PV testing into risk-based screening for breast cancer.
Researchers found that the right ventricle is better able to withstand loss of blood perfusion and oxygen supply during cardiac arrest, leading to longer preservation of its native electrical activity. The study's findings support the use of surface ECG signals to predict neurological recovery after hospital admission.
A new study by the University of Southampton has found that reusable catheters are just as safe for patients as single-use ones and do not increase the risk of urinary tract infections. The study followed hundreds of patients for a year and discovered that those who tested reusable catheters used 35 per cent fewer antibiotics.
A recent study from the University of Kansas found that a common mutation in the PTPN22 gene may provide a survival advantage against viral infections, including coronavirus. The mutation was previously associated with an increased risk of developing autoimmune diseases such as diabetes and lupus.
A global partnership has provided life-saving genetic testing for over 1,100 families worldwide, improving treatment options for children with congenital hyperinsulinism. The Open Hyperinsulinism Genes Project combines cutting-edge genetics expertise with funding from a charity organization to expand access to rapid genomic testing.
Researchers discovered that body temperature plays a key role in which tissues are affected by TRPM4 ion channel mutations. The findings explain why disease-causing TRPM4 mutations lead to mutually exclusive conditions, such as severe skin diseases like PSEK and heart disorders like progressive familial heart block.
A new study from Virginia Tech found that task switching in transplant surgeries increases one-year mortality rates by 14.8 percent, highlighting the need for efficient scheduling and workflow changes to minimize risks. The research also suggests that recovery time and surgeon experience level can mitigate these effects.
A team of scientists at the University of California, Davis, has discovered an inherited form of blindness directly comparable to autosomal dominant optic atrophy (ADOA) in rhesus macaques. The study could lead to a better understanding of ADOA and potentially new treatments.
The Alliance for Clinical Trials in Oncology has several active trials specifically designed to help people with head and neck cancers. Trials include testing high-dose prophylactic gabapentin to prevent opioid use during treatment, as well as immunotherapy with nivolumab and cabozantinib for mucosal melanoma and nasopharyngeal carcino...
A University of Calgary-led study found that children with genes predisposing to migraine are at higher risk of developing more severe headaches after a concussion. The research identified specific genetic mutations and family history of migraine as associated risks.
Scientists have discovered a new rare genetic disease caused by a mutation in the RPN1 gene, which affects glycosylation and leads to protein instability. The disease, now termed RPN1-CDG, is characterized by neurodevelopmental issues and has expanded the number of genes associated with OST complex diseases.
A randomized trial found that duloxetine does not prevent painful neuropathy caused by oxaliplatin-based chemotherapy in patients with stage II or III colorectal cancer. The study suggests that duloxetine should only be used for managing existing neuropathy, not prevention.
A new blood-based biomarker has been discovered to help identify individuals at higher risk of developing cancer in people with Lynch Syndrome. The biomarker uses immune signatures detected in blood samples to provide unique characteristics that can detect cancer risk, allowing for early detection and personalized surveillance.
The Alliance for Clinical Trials in Oncology is enrolling adolescent and young adult cancer patients in various trials, including genetic services and treatment studies. These trials aim to address longstanding gaps in care and improve outcomes for AYAs with cancer.
A new survey by Autism BrainNet reveals a significant disconnect between Americans' strong support for autism research and their limited understanding of postmortem brain donation. The survey found that 70% of respondents had never heard of brain donation, despite 92% agreeing its importance in advancing research.
A new genetic 'roadmap' provides a navigational framework for more precise diagnosis and treatment of intrahepatic cholangiocarcinoma. The framework identifies five molecular subtypes, each associated with distinct therapeutic vulnerabilities, enabling targeted treatment strategies.
Researchers analyzed genetic data from nearly 94,000 participants in UCLA's ATLAS Biobank, highlighting new connections between genes, disease risk and medicine response. The study found that genetics can predict how well patients respond to GLP-1 drugs for weight loss purposes, with varying response rates across ancestry groups.
Researchers found that NUTM1 rearranged leukemia is distinct from other forms, with decreased DNA methylation and increased lifespan of blood cells. Leukemias with BRD9-NUTM1 fusion are extremely sensitive to chemotherapy, leading to improved clinical outcomes.
Researchers found that people with early dementia with Lewy bodies walk more slowly and have a lower walking rhythm than those with early Parkinson's disease. This study highlights the promise of measuring movement in a more detailed manner to improve diagnosis accuracy.
A study by Cincinnati Children's Hospital Medical Center and the eMERGE network found that sharing genetic disease risk information with patients can be done responsibly, with a 70% success rate. The team shared results with over 24,000 people using various methods, including one-to-one conversations for those with higher-risk findings.
A new clinical trial will investigate whether adding the oral medication vorasidenib to standard chemotherapy improves progression-free survival for people with newly-diagnosed, grade 3 IDH-mutant astrocytoma. The study aims to recruit 400 individuals with this type of brain cancer and evaluate the safety and side-effect profile of the...
A new study reveals that people of South Asian, African, and European ancestry share common genetic risk factors for multiple sclerosis, despite historic lack of representation in research. The study highlights the importance of diverse representation in research to improve understanding of the disease and develop effective treatments.
A new study from Memorial Sloan Kettering Cancer Center reveals that analyzing a patient's genomic profile can predict breast cancer resistance to CDK4/6 inhibitors. The researchers found that inheriting a BRCA2 mutation and other genetic alterations increase the likelihood of resistance. This discovery provides a new strategy for pred...
A new clinical study aims to improve communication between patients and families about genetic risks of colorectal cancer. The trial will compare two methods of sharing genetic test results with close relatives, with the goal of learning which approach helps more family members get necessary genetic testing.
A team of researchers from the University of Oldenburg has discovered a unique genetic pattern, or 'fingerprint', associated with NOTCH1 gene variants that commonly cause congenital heart defects. This breakthrough enables more reliable diagnoses and targeted therapies for patients and their families.
The THRIVE team is developing a PROSPR Intrinsic Capacity score to predict 20-year health outcomes, using wearable data, blood-based biomarkers, and health surveys. The score aims to enable accessible, scalable monitoring of aging and improve interventions.
A new study has confirmed that male and female lungs are wired differently at the molecular level, revealing key gene networks driving sex differences in respiratory health. The research found that male lungs are more reactive to environmental triggers, leading to different disease experiences between sexes.
Researchers identified four distinct brain metastasis subtypes, each with unique immune landscapes and metabolic programmes. The 'Immune-infiltrated subtype' showed high sensitivity to immunotherapy, while the 'Metabolic subtype' responded well to targeted therapies. The study paves the way for personalized treatment strategies.
Researchers created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development. They found that despite initial differences, these mutations increasingly impact overlapping molecular pathways as development progresses.
Researchers successfully diagnosed and treated ten PCNSL patients using liquid biopsy, detecting hotspot MYD88 L265P mutations in circulating tumor DNA. This method offers a reliable alternative to surgical biopsies for patients with difficult-to-access lesions or frailty, enabling timely treatment initiation.
Researchers at Salk Institute debut an epigenetic catalog that shows genetic inheritance and life experiences have distinct effects on various types of immune cells, shedding light on individual differences in immune responses and potential new personalized therapeutics.
The use of next-generation sequencing in newborn screening can detect a wide range of genetic disorders, some of which are not currently testable through traditional means. This approach enables earlier disease detection and long-term health planning.
A new study by CNIO has identified two genes in the complement system that increase the risk of pancreatic ductal adenocarcinoma. These genes, FCN1 and PLAT, may serve as biomarkers for screening high-risk populations.
Researchers found that close to half of all dementia cases would not arise without the APOE gene's influence, and potentially more than 90% of Alzheimer's disease cases are linked to variants in this single gene. The study highlights the APOE gene as a powerful target for drug development.
A study found that increased bone morphogenetic protein signaling is linked to impaired neurogenesis in Alzheimer's disease, particularly in female mice. The research suggests that activation of BMP signaling may be a key factor contributing to the sex-based differences observed in AD.
A recent study published in Gut journal revealed that Streptococcus anginosus produces methionine metabolites, which significantly contribute to the development of gastric cancer. The research opens new paths for microbiota-targeted prevention strategies.
Research from the University of Basel found that individual genetic differences can make antibody-based therapies ineffective in some people. The study analyzed thousands of genetic sequences and discovered a large number of naturally occurring variations in amino acid sequences, which can render treatments ineffective.
A blood test may help doctors identify which patients with colon cancer can benefit from anti-inflammatory medication and chemotherapy after surgery. The test measures circulating tumor DNA levels, and high-risk patients who test positive see improved survival rates when taking celecoxib with chemotherapy.
A study found that only 6% of FDA-approved drugs reflect the US racial and ethnic makeup, with a decline in Black and Hispanic enrollment between 2021 and 2023. The researchers recommend setting diversity goals at preclinical stages and collecting biological samples to understand how people's bodies react to medications.
Astrocytic glutamine synthetase plays a key role in regulating glutamate signaling, contributing to nicotine-induced brain changes and locomotor sensitization. A custom-designed peptide inhibits this process, demonstrating the importance of astrocyte communication in nicotine addiction.
The UK has published a new clinical guideline recommending pharmacogenetic testing for all patients prescribed clopidogrel to determine their individual genetic response to the medication. This is due to variations in the CYP2C19 enzyme, which affects how clopidogrel works in different people.
A recent study found that the protein TDP43 regulates genes responsible for fixing DNA mistakes, which can lead to cancer when overactive. The discovery could lead to new treatments by controlling overactive DNA repair, offering a therapeutic strategy for diseases such as ALS and dementia.
A new paper from the University of Kansas overturns the idea that gene PTPN22 boosts production of Type 1 interferon, a key antiviral response. Researchers found no difference in interferon production when PTPN22 was knocked out, but discovered its influence on other immune signaling pathways.
The American Society of Human Genetics (ASHG) is hosting the Genetic Diagnosis & Rare Disease Virtual Symposium, providing state-of-the-art methodologies in genetics and genomics research. Attendees can earn CME credits and engage with leading experts in rare disease diagnosis and genomic technologies.
The Ontario Hereditary Cancer Research Network has created a comprehensive provincial database to support research on cancers passed down through genetics. Ontarians at risk of hereditary cancers can now register for access to clinical trials, advocacy groups, and other resources.
Researchers are presenting groundbreaking findings at the Association for Molecular Pathology's annual meeting, including a novel technique to study ancient DNA and rapid detection of serious fungal pathogens. The Association for Molecular Pathology is providing press materials and resources for media coverage.
Researchers used human-induced pluripotent stem cell-derived kidney organoids to model nephronophthisis, revealing the Hippo signaling pathway's role in fibrosis. Inhibiting this pathway with drugs like verteporfin shows promise as a treatment option.
Researchers at Tohoku University shared key findings from their 10-year genome cohort study, highlighting effective techniques for analyzing and managing genomic data. The study's unique approaches to whole-genome sequencing, including qMiSeq and iDeal protocols, have been widely adopted by institutions worldwide.
Researchers developed a novel mouse model to visualize RNA Polymerase II during elongation, shedding light on gene expression dynamics. The study revealed dynamic patterns of gene transcription activity in various tissues and developmental states, with implications for understanding development, differentiation, and disease mechanisms.
A new genetic risk score combines rare and common gene variants with non-coding genome information to predict arrhythmia risk. This comprehensive framework can be applied to other genetically influenced diseases like cancer and Parkinson's Disease.