Articles tagged with Medical Genetics
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
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.
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.
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 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.
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.
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.
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.
A review highlights transposable elements' influence on gene expression, genome stability, and disease development. TEs are recognized as regulators of gene regulation and disease, offering new avenues for diagnosis and therapy.
Researchers at Weill Cornell Medicine have developed a powerful new gene-switch tool called Cyclone, which allows scientists to turn on or off target genes with precision. The tool uses a non-toxic molecule acyclovir to suppress gene activity, and has the potential to be adopted throughout biomedical research and gene therapies.
The study successfully applied a new gene therapy approach to treat impairments in hearing and balance caused by inner ear dysfunction. The treatment method used an advanced AAV vector, achieving faster and more efficient transduction of hair cells and preventing degeneration.
A new Alliance trial is exploring the effectiveness of a combination of targeted therapy and immunotherapy for patients with advanced adrenocortical carcinoma, a rare and aggressive cancer. The study aims to improve disease control and quality of life for patients with limited treatment options.
Researchers used CRISPR technology to identify HMGN1, a nuclear binding protein that contributes to trisomy 21-related CHDs. The study found that an overabundance of HMGN1 leads to abnormal heart development and gene expression.
A large international study reveals that women with a precursor condition to Parkinson's disease exhibit significantly less brain atrophy compared to men. The research suggests that estrogens may play a crucial role in protecting the brain from neurodegeneration.
Researchers developed TAMENDOX to supplement (Z)-endoxifen in patients with CYP2D6 enzyme deficiency, improving drug concentration and effectiveness. The new therapy was well-tolerated, showing promise as an alternative to aromatase inhibitors for premenopausal women.
The Association for Molecular Pathology has created a standardized biomarker report template to simplify complex molecular profiling data presentation to oncologists and healthcare providers. The template includes guidelines for clear formatting, therapeutic guidance, and references to clinical practice guidelines.
A new review in Frontiers in Science calls for a fundamental shift in how heart drugs are discovered and tested using AI, omics, and big data. This approach could drive the development of personalized treatments for cardiovascular disease, which currently relies on broad-brush treatments that don't account for individual variability.
Researchers have identified over 120 genetic signals shaping foveal development, including pathways involved in vitamin A metabolism and retinal cell fate. The study provides the first comprehensive genetic dissection of human foveal pit architecture, revealing new insights into childhood visual disorders.
Researchers found 22 previously unknown genetic variants associated with type 2 diabetes by considering participants' hormone levels. The analysis suggests that sex hormone levels interact with genes to increase the risk of developing the disease.
A landmark study in China has established a new diagnosis framework for rare diseases, improving the diagnostic rate from 29.58% to 39%. The study analyzed genetic data from 42,703 families and identified regional differences and genetic hotspots.
Researchers uncover how EZH2 gene mutations sabotage healthy copy, leading to intellectual disability and overgrowth, with implications for related diseases and cancer. The study provides new insights into chromatinopathies and potential targeted therapies.
Researchers at the University of Waterloo have developed a novel method using modified M13 bacteria to deliver targeted gene therapies for genetic disorders. This approach shows promise as a cost-effective alternative to current methods, which can be expensive and trigger toxic side effects.
A recent study by researchers at the University of Missouri has made a groundbreaking discovery using patient's own cartilage cells to aid in healing after hip surgery. The research team successfully cultured and expanded cartilage cells, or chondrocytes, in the lab, paving the way for future clinical applications.
A Phase I/II clinical trial found that gene therapy reduced seizures, improved oral feeding, and increased production of the HexA enzyme. Participants experienced fewer and more controllable seizures, and some remained on full oral feeds for up to 27 months.
The article explores the genetic factors, epidemiological patterns, and current management techniques associated with clubfoot. Key findings highlight the crucial role of genes like TBX4, PITX1, and HOXA in limb development and tissue differentiation.
Researchers at The University of Osaka have developed a novel technology to unzip DNA's double helix structure, allowing for efficient and accurate genetic testing. The device uses a nano-sized platinum coil and precise heating to minimize DNA damage and read information from the DNA molecule.
The American Society of Human Genetics recognizes Dr. Harry Dietz for his work on Marfan Syndrome, Dr. Eric Green for his leadership in advancing human genetics and genomics, Dr. Mike Talkowski for his pioneering contributions to cytogenetics and genomic medicine, and Dr. Elizabeth Bhoj for her extensive work in translational genetics.
A new study reveals that the human gut microbiota can pinpoint an individual's city of residence with high accuracy, strongly linked to each city's characteristic diet. The researchers identified unique microbial signatures and interaction networks between cities in China, shedding light on how local environments shape our inner biology.
A University of Oklahoma researcher has made a breakthrough discovery about Friedreich’s ataxia genetic defect, revealing that the sequence isn’t always uniform as previously thought. This finding could lead to changes in diagnosis and treatment, including a milder version of the disease with slower progression.
Researchers at UC Davis MIND Institute recommend testing for specific groups, citing inadequate recognition by healthcare providers. The group of genetic conditions affects learning, development, and behavior, with millions of people unaware they carry the premutation.
A study of 365 adults found nearly one in four had a genetic condition causing their ICU admission, which was unknown to nearly half of those patients and their doctors. The researchers recommend offering genetic testing to all adults admitted to the ICU to improve care and reduce health disparities.
Dr. Mirko Manchia's groundbreaking research identifies genetic markers predicting treatment response in bipolar patients, enabling precision medicine approaches to transform psychiatric care. He envisions a future where genetic testing becomes routine in psychiatric care.
Researchers have identified a gene signature indicative of hepatic ferroptosis using an iron overload-induced mouse model and validated it in human liver injury systems. The study highlights the role of ferroptosis in liver injuries and offers potential therapeutic targets.
The Association for Molecular Pathology publishes guidelines for detecting homologous recombination deficiency (HRD) in cancer. The report includes recommendations for clinical laboratories, addressing technical aspects of genomic instability and HRD analysis.
A new international study identified two distinct genetic signatures for complex forms of Alzheimer's disease, with one primarily driven by apolipoprotein E and the other involving a combination of 75 additional genetic variants. This shared biological mechanism is largely consistent across global populations.
Researchers at Rutgers University have developed a portable device capable of detecting rare genetic mutations from a single drop of blood. The device combines allele-specific polymerase chain reaction with electrical impedance to quickly and accurately test for conditions like hereditary transthyretin amyloidosis.
Researchers developed a new computational tool using generative AI to identify key gene combinations underlying complex illnesses. The method amplifies limited gene expression data, enabling researchers to resolve patterns of gene activity that cause complex traits.
A new AI tool developed by University of Missouri researchers can predict the 3D shape of chromosomes inside individual cells, providing a new view of how genes work. The tool helps identify unique differences in chromosome folding between cells, which controls gene activity and can lead to diseases like cancer.
A recent epigenetic study identified RABGGTB as a promising biomarker for autism spectrum disorder, revealing extensive DNA methylation abnormalities in key brain regions. The findings suggest that studying this gene could unlock new doors to understanding ASD and lead to future diagnostic breakthroughs.
Researchers have synthesized cutting-edge findings on Prader-Willi syndrome, revealing its unique link to autism spectrum disorder and psychotic spectrum disorders. The condition's distinct genetic subtypes correlate with specific psychiatric outcomes, offering critical insights into the interplay between genetics and psychiatric vulne...
A new study reveals that inherited germline genetic variants significantly influence the biology of tumors, altering protein activity, gene expression, and tumor interactions with the immune system. The research suggests that considering a patient's inherited DNA could refine diagnosis, risk prediction, and therapy selection.
Researchers used mice to examine the activity of two neuronal proteins linked to autism. They found that a natural balance between MDGA2 and BDNF maintains normal neuron activity, but disruption can lead to ASD-like symptoms. This study suggests MDGA2 and BDNF as promising therapeutic targets for future treatments.
Ali H. Bereshneh, PhD received the award for his work on heterozygous De novo variants in CDKL1 and CDKL2, causing neuroregressive phenotypes in humans and Drosophila. He established a comprehensive Rare Neurogenetic Disorders Registry for Iran.
The ACMG Foundation has presented four Next Generation Fellowship Awards to talented clinicians, researchers, and scientists. These winners are making significant impact in the field of genomics, advancing diagnosis, and patient care. The award recognizes their dedication to innovative approaches and commitment to improving healthcare ...
Isabelle Cooperstein, a PhD candidate, receives the ACMG Foundation/Revvity Early Career Travel Award for her work on developing computational tools for rare disease patients. Her research integrates phenotypic and genomic data to create accessible solutions.
Dr. Kiely N. James received the 2025 Richard King Award for her published article on genome sequencing and its clinical relevance. The award aims to encourage high-quality research in Genetics in Medicine, an official journal of the American College of Medical Genetics and Genomics.