Articles tagged with Genetic Medicine
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.
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.
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.
A new gene therapy delivery device called NANOSPRESSO could revolutionize how hospitals treat rare diseases by allowing them to create personalized nanomedicines in-house. This democratized approach to precision medicine could boost access to low-cost bespoke gene and RNA therapies, especially in low-resource settings.
Scientists have uncovered a previously unknown mechanism explaining how neurons survive botulinum neurotoxin type A exposure. The research found that specific tRNA fragments interact with key proteins and RNA molecules involved in regulating ferroptosis, supporting neuronal survival by blocking cell death pathways.
A study found that genetic predisposition to higher muscle strength is associated with lower all-cause and cardiovascular mortality in aging men. The association remained significant even after adjusting for lifestyle factors such as smoking and body mass index.
Researchers identified unique biological mechanisms that cause premature aging in the brains of individuals with alcohol, opioid, and stimulant use disorders. Different substances appear to hijack the brain's natural aging rhythm through distinct molecular mechanisms, though some pathways are shared across different substance types.
Researchers used umbilical cord blood to analyze genetic changes linked to metabolic dysfunction in children. The study found multiple regions of altered DNA associated with metabolic issues later in childhood.
A new study reports on five patients with Canavan disease who have a novel variant identified through targeted long-read sequencing, revealing an SVA_E retrotransposable element that disrupts gene function. The findings enhance genetic diagnostics and enable improved guidance for families.
A recent study published in Current Neuropharmacology suggests a potential link between Glucagon-like Peptide-1 (GLP1) receptor agonists and depression, particularly in individuals with low dopamine function. The authors urge caution and recommend genetic testing to identify individuals at risk before prescribing these medications.
A new genomics tool, refget Sequence Collections, streamlines genomic research by standardizing reference sequences. This enables scientists to compare data more efficiently and accelerate medical breakthroughs.
A recent study has made a breakthrough in understanding the genetic underpinnings of osteoarthritis by identifying 962 genetic markers associated with the condition. The researchers found 513 new genetic markers that were not previously reported, providing potential new drug targets and opportunities for repurposing existing medications.
Ferhaan Ahmad, a renowned cardiovascular researcher and clinician, has been selected as the new Editor-in-Chief of Circulation: Genomic and Precision Medicine. He brings extensive expertise in cardiovascular genomics and leadership skills to drive scientific advances in the field.
Researchers used CRISPR interference to examine every gene in the human genome and discovered a new set of genes contributing to Parkinson's disease risk. The study identified the Commander complex, which regulates lysosomal function and is implicated in PD risk, offering opportunities for new treatments.
Researchers have identified nearly 300 genetic disorders that can be treated during pregnancy or in the first week of life, offering unprecedented opportunities for early intervention. The 'treatable fetal findings list' aims to improve diagnosis and enhance treatment options for fetuses with these conditions.
Novel biomarkers like miRNA-34a link anthracyclines to cardiotoxicity, while stem cell therapy and nanotechnology offer potential for prevention and treatment. Traditional strategies have limitations, but new approaches hold hope for improved patient outcomes.
A new study found that genetic predisposition to sedentary behavior is associated with a higher risk of developing the most common cardiovascular diseases. Individuals with the highest genetic predisposition accumulated more daily sedentary time and had a 20% higher risk of cardiovascular diseases.
A national study in Australia aims to understand the genetic cause of rare diseases, improving diagnoses and treatment options for those affected. The study is recruiting Australians with a known or suspected rare genetic disease to gather information and connect them with future research opportunities.
The Tinker Tots project enables participants to engage with ethical dilemmas in embryo selection, providing valuable insights into human values and decision-making. By navigating rounds of embryo selection dilemmas, users weigh and prioritize traits and conditions, revealing patterns in their thought processes.
A study found that agricultural antifungals, like TBZ, can cause genomic changes in the infectious yeast Candida tropicalis, increasing its resistance. This increase in resistance poses a growing concern for human infections, as many pathogens are becoming resistant to antifungal medicines.
A new study published in Nature reveals critical insights into how spina bifida develops, identifying specific steps in embryogenesis that contribute to the condition. The research also suggests a potential link between new DNA mutations and disease risk, opening the door for future treatments such as gene therapy and targeted drugs.
A multidisciplinary team has generated an atlas to optimize gene therapy delivery, providing researchers with insights into the most effective viral vectors for specific tissues. The study identifies AAV4 as a promising vector for vascular and pancreatic applications, offering new possibilities for treating conditions like diabetes.
A study found that genetic variants in three genes (CYP2C19, CYP2D6, SLCO1B1) can lead to adverse reactions in up to 75% of cases. This could allow for personalized prescribing and reduce ADRs by three quarters.
A new study emphasizes the importance of understanding genetic underpinnings of psychiatric disorders for mental health providers. Key findings highlight the application of genetic information in risk assessment, diagnosis, treatment selection, and patient education, while also considering ethical considerations.
A study published in JAMA Network Open found that more than 90% of participants with medically important genetic findings were unaware of their risk prior to participation in Geisinger's MyCode program. The initiative has disclosed genetic results to over 354,000 participants, who can now take proactive steps to prevent or detect disease.
Jessica Adsit, a board-certified genetic counselor, received the 2025 ACMG Foundation Genetic Counselor Best Abstract Award for her platform presentation on next-generation sequencing in blastocyst stage embryos. The award celebrates contributions to research and clinical care made by licensed genetic counselors.
A study found that adding blood metabolite data to genetic risk scores improves glaucoma prediction accuracy, particularly in individuals at high genetic risk. Higher levels of lactate, pyruvate, and citrate were associated with a reduced risk of glaucoma.
A genomics blood test has improved diagnosis and treatment plans for children with rare diseases, including epilepsy. The test provides genetic diagnoses for 43% of children in under three weeks, leading to significant impacts on treatment.
A comprehensive genetic representation for over 2.5 billion people has been created, capturing genetic diversity and variations found in diverse populations. This pangenome reference aims to enhance early diagnosis and personalized treatments for genetic diseases prevalent in the region.
A global genetic study has discovered new links between predicted height and diseases, including mental disorders and the endocrine system. The research used data from diverse ancestries and found significant associations that could improve early diagnosis and patient care.
A study uncovered new genetic clues explaining why some prostate cancers grow slowly while others become life-threatening, identifying 223 mutations that determine tumor progression. The research shows germline and somatic variability work together to initiate and drive prostate cancer.
Researchers at the University of Malaga have identified multiple genetic variants causing Familial Chilomicronemia Syndrome, a rare disease characterized by high triglyceride levels. This discovery enables accurate clinical diagnosis and treatment selection for patients with this condition.
A new study discovered rare gene variants in Asian Indian people that increase the risk of Type 2 diabetes, providing a window into targeted treatment. The findings suggest that these variants can be used to create personalized medications that target specific proteins or pathways.
Professor Collen Masimirembwa receives Precision Medicine World Conference Pioneer Award for his groundbreaking work in pharmacogenomics, advancing personalised medicine and tailoring treatments to individual genetic profiles. His research has improved patient outcomes and saved lives by uncovering critical issues with HIV medications.
A new genetic medicine has been developed to treat a rare genetic deficiency affecting the AIPL1 gene, causing severe retinal dystrophy. The treatment involves injecting healthy copies of the gene into the retina through keyhole surgery, resulting in dramatic improvements in sight for four young children.
A public consultation in the UK found that 90% of respondents would agree to genetic testing for personalized medication use. The study aims to better understand the public's views on pharmacogenetics and its potential impact on healthcare.
Scientists at Duke University have discovered a master epigenetic switch that can be activated using CRISPR to compensate for missing genes in Prader-Willi syndrome. This approach could potentially treat the disease by turning on naturally suppressed genes from one parent, addressing the underlying genetic defect.
A groundbreaking study analyzed data from over 78,000 cancer patients to identify nearly 800 genetic changes impacting survival outcomes. The research also discovered genes significantly associated with survival in various cancers, such as breast, ovarian, skin, and gastrointestinal cancers.
A new study from the University of Pennsylvania School of Medicine has created a comprehensive genetic map of over 1,000 genes influencing kidney function, providing new insights into the causes of kidney disease. The researchers discovered that proximal tubule cells are a key
A new 3D bioprinted gastric cancer model successfully replicates the unique characteristics of individual patients' tissues, predicting drug responses and prognosis with high accuracy. This innovative platform enables rapid evaluation within two weeks, contributing to personalized cancer treatment development.
Researchers at the University of Maryland discovered multiple pathways for dsRNA molecules to enter cells, challenging previous assumptions about RNA transport. They found that a protein called SID-1 plays a key role in regulating genes across generations, which could lead to better targeted treatments for human diseases.
Researchers at Umeå University have developed next-generation chemo-optogenetic tools that enable precise control of proteins in real-time in living cells. The new molecular glues can be turned on or off using light, allowing for multiple activation cycles and overcoming limitations of previous systems.
A European consortium has successfully diagnosed over 500 patients with unknown conditions, including rare neurological disorders and hereditary cancers. The diagnoses were made possible by extensive collaboration and reanalysis of existing genome data.
The new NCCN Guidelines for Patients: Genetic Testing for Hereditary Breast, Ovarian, Pancreatic, and Prostate Cancer provide evidence-based recommendations for assessing and testing for inherited genetic mutations. The resource aims to inform individuals about their cancer risks based on personal or family history.
Researchers have identified a 177-gene signature common to metastasis across cancers, allowing for personalized risk assessment and potential therapies. The discovery could lead to broader treatment options, faster drug access, and improved patient outcomes.
Researchers have developed a new genetic engineering tool, mvGPT, that can precisely edit genes, activate gene expression, and repress genes all at the same time. The technology has shown promise in treating genetic diseases such as Wilson's disease and type I diabetes by targeting multiple genetic conditions simultaneously.
The ChiTaRS 8.0 database is the world's largest collection of chimeric genes found in humans with cancer and other chronic diseases. It enables the precise adaptation of treatments to specific cancer types, improving treatment success and minimizing side effects.
The partnership aims to improve disease screening and prevention, as well as talent training and medical infrastructure development in Punjab Province. BGI Genomics will focus on localized innovation and genetic technology applications to support precision medicine services in Pakistan.
BGI Genomics strengthens ties with Saudi Arabian partners to advance public health development through genomics technology. The company aims to apply its expertise in precision medicine to support Saudi Arabia's Vision 2030 goals.
A study from Tulane University found that a low-protein diet in one generation can lead to lower birthweights and smaller kidneys in offspring across multiple generations. The findings suggest that food scarcity or malnutrition may result in decades of adverse health outcomes.
Researchers at Johns Hopkins Medicine have discovered that excessive Gata4 protein accumulation in vascular smooth muscle cells contributes to aortic aneurysm vulnerability in Loeys-Dietz patients. The study's findings may help refine treatments for this genetic disorder, which affects connective tissue systems.
A new framework developed by UCLA researchers suggests that genetic data from large libraries of sequenced human genomes can improve the predictive power of genetics in determining how well a patient will respond to commonly prescribed medications and the severity of any side effects. The study, which analyzed data from over 342,000 pe...
The American College of Medical Genetics and Genomics has published a new evidence-based clinical guideline for phenylalanine hydroxylase deficiency diagnosis and management. The guideline provides recommendations for treatment, implementation considerations, research priorities, and economic considerations to improve patient outcomes.
A research team developed a diabetes prediction system utilizing clinical and genetic data through deep learning AI algorithms. The system predicts the risk of developing type 2 diabetes within five years, enabling early preventive strategies.
The WHO's Technical Advisory Group on Genomics published an article outlining challenges and actions to promote the use of genomics in public health. The group aims to increase awareness and provide technical guidance to accelerate access to genetic technologies, enabling preventive measures and targeted treatment for various diseases.
University of Toronto researchers developed a new computational method to study genome organization, uncovering previously unknown patterns in human chromosomes. The method uses machine learning to analyze high-throughput chromosome conformation capture data and sheds light on chromosomal re-organization leading to disease development.
Knowing family health history is crucial for reducing heart attack and stroke risk. Experts recommend following Life's Essential 8 - five health behaviors and three health factors to lower genetic risks.
Researchers from CRG, UPF, and IBE are teaming up to explore evolutionary underpinnings of disease at the molecular level. The program combines evolutionary medicine and medical genomics to enhance precision medicine.
A new study from UCLA Health Jonsson Comprehensive Cancer Center introduces a combined genetic and functional profiling approach to predict how glioblastoma will respond to therapy. The approach helps identify new ways to target and treat the tumors more effectively, including using an experimental drug called ABBV-155.
Dr. Natalia Acosta-Baena has identified a novel genetic syndrome that reshapes our understanding of brain disorders and challenges traditional views on neurodevelopmental disorders and neurodegeneration. Her research reveals how a single gene involved in neuronal transport can influence both brain development and degeneration.
The National Comprehensive Cancer Network has updated its guidelines for genetic/familial high-risk assessment, incorporating the latest scientific research and expert recommendations to enhance screening practices and treatment options. The expanded guidelines cover various cancer types and provide guidance on genetic testing, heredit...