Articles tagged with Complex Diseases
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 identified over 200 distinct mutations associated with congenital deafness, including new and family-specific variants. The study provides guidance on communication methods and supports regular ophthalmological follow-up.
A new strategy for studying Hirschsprung disease in mice has revealed the interactions between multiple genes that control the condition. Researchers found that combining weaker mutations in genes RET and EDNRB creates a more realistic model of the disease, with key similarities to human HSCR.
A recent study from Medical University of South Carolina research team challenges the notion that hypermobile Ehlers-Danlos Syndrome is an isolated connective tissue disorder. The studies reveal a genetic variant associated with the disease and disruption of the immune system, which may be the underlying cause. This new understanding a...
A new report from the University of Maryland School of Medicine presents a five-year data model demonstrating how a state-funded, multidisciplinary care approach can improve health outcomes and quality of life for adults with autism spectrum disorder (ASD) and other neurodevelopmental disorders. The study found that this model can serv...
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.
Researchers identified 13 genes linked to obesity across six continental ancestries, including five previously unknown. These genes, expressed in brain and adipose tissue, are associated with increased risk of severe obesity, Type 2 diabetes, and other health problems.
A new method has created reliable growth charts for six rare genetic conditions using data from almost 600 children worldwide. The LMSz method provides condition-specific charts that can help healthcare professionals make informed decisions and give families a clearer picture of their child's growth, supporting better medical care.
A recent study found that a person's genetic background, rather than a single gene, plays a key role in the development of complex disorders. The research revealed patterns of secondary variants that can modify the impact of primary genetic variants on clinical outcomes.
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.
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 identified three distinct molecular subtypes of follicular lymphoma, offering insights into personalized treatment plans. The subtypes C1, C2, and C3 differ in their genetic profiles and tumor microenvironments, guiding the use of specific 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 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.
Researchers have identified a previously unknown organelle called the hemifusome that plays a crucial role in cellular sorting and recycling. This discovery could lead to targeted treatments for complex genetic disorders like Hermansky-Pudlak syndrome, which affects multiple systems in the body.
The National Urea Cycle Disorders Foundation is establishing a multistakeholder Partner Network to guide health care decisions and build a sustainable infrastructure for UCD research. The project aims to empower the broad UCD community to work together effectively, identify research needs, and create a roadmap for future studies.
A study by University of Rochester Medical Center researchers reveals that caregivers of medically complex children (CMC) can build resilience by practicing self-care and building support networks. The study identifies three critical strategies for successful adaptation, including developing a support community and engaging in coping s...
Researchers found that central body fat, especially around the abdomen, is a stronger link to psoriasis risk than total body fat. This association remained consistent regardless of genetic predisposition, suggesting abdominal fat as an independent risk factor.
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 review from Marshall University researchers highlights emerging connections between gut health and sleep apnea, pointing to potential new therapeutic approaches for managing this common disorder. Alterations in gut microbiota composition have been consistently observed in individuals with sleep apnea, inducing systemic inflammati...
A national survey reveals significantly higher rates of five mental health conditions in incarcerated individuals and those with recent criminal-legal involvement compared to community members. The study emphasizes the critical need for informed care and treatment to address the high rates of incarceration and improve community support.
A new digital 'translator' for brain studies enables researchers to map the brain in a standardized way, facilitating discoveries and treatments for various disorders. The open-source software allows for the comparison of brain imaging data with widely used brain atlases, promoting commonalities across findings.
A study published in Biological Psychiatry identified the Shisa7 gene as a key driver of heroin addiction. The research team used machine learning to analyze brain tissue from human opioid users and found that modulating this gene's expression influenced heroin-seeking behavior and cognitive flexibility.
This disorder has diverse etiologies, variable presentations, and different therapeutic responses. The proposed diagnostic algorithm can differentiate pediatric MF subtypes to improve patient outcomes.
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.
Scientists found that parts of human chromosomes have evolved rapidly to enable complex brain development in humans. However, this acceleration may also lead to neurodevelopmental disorders like autism. The study used artificial neurons derived from human and chimpanzee cell lines.
A new study found that children with avoidant restrictive food intake disorder (ARFID) are at a higher risk of developing intellectual disability, autism, gastro-oesophageal reflux disease, epilepsy, and chronic lung diseases. They also experience more medical diagnoses and require longer hospital stays than other children.
Researchers from Japan found that organizational strategies, third-wave techniques, and problem-solving techniques are the most effective components of cognitive–behavioral therapy in treating ADHD. These approaches can help improve planning, prioritization, organization, emotional regulation, and stress management.
Researchers from The Mount Sinai Hospital analyzed an AI system to detect heart defects on fetal ultrasound exams, finding it significantly improved detection rates. The study aimed to improve prenatal detection of congenital heart defects, a leading cause of infant morbidity and mortality.
A new AI-powered tool from KAUST researchers is mapping cause-and-effect relationships between diseases, creating a framework for targeted therapeutic strategies and disease prevention. The tool reveals surprising links between metabolic diseases and other conditions, including cardiovascular and nervous system diseases.
A new study found that AI-generated empathetic responses were preferred over those from humans and expert crisis responders. The researchers suggest that AI can supplement human empathy, but should not replace it entirely due to potential biases and ethical concerns.
Researchers identified 18 Japanese-specific genetic polymorphisms linked to allergic sensitization, as well as shared variants across both Japanese and European populations. The study highlights a major advancement in understanding the molecular mechanisms underlying allergic diseases.
A new study at Columbia University Mailman School of Public Health found no changes in opioid outcomes among the general population with the states' passage of medical and recreational marijuana laws. Decreases in opioid outcomes were observed among people reporting cannabis use but not when both medical and recreational use laws existed.
Researchers developed an interactive screening model called RITA-T, which improved early identification of high-risk toddlers from underserved areas. The study found that toddlers screened via RITA-T had shorter wait times and more accessible diagnostic services compared to those not using the model.
Researchers from NUS and A*STAR have discovered a connection between the regulation of alternative splicing in different cell types and the predisposition to autoimmune diseases. The study used a population-scale single-cell gene expression profiling dataset to analyze splicing events specific to particular cell types, revealing ancest...
Researchers evaluated coronary heart disease polygenic risk scores to determine their performance and agreement at the population level. They found that while scores performed similarly, they generated highly variable individual-level risk estimates, highlighting the need for refined statistical methods.
The new hospital will provide patient-centered care with personalized, compassionate treatment and groundbreaking research. Patients will have access to top specialists and pioneering therapies in cancer treatment.
Researchers develop transcranial ultrasound stimulation (TUS) as a non-invasive therapy for brain-related issues, with potential for personalized treatments. A 'search and rescue tool' for the brain, TUS enables precise targeting of specific areas before treatment.
Researchers develop novel mathematical formalization, the quantitative omnigenic model (QOM), to understand how mutations affect diseases. The QOM combines state-of-the-art genome analysis with biological insights to explain polygenic diseases.
A team of scientists, led by Anne Bang, is working to establish clearer connections between genes and their effects on brain function and mental health. They will use high-throughput screening technology to study over 100 genes in brain cells.
The NEC Society, Cincinnati Children's, and UNC Children's will host the world's largest conference focused on necrotizing enterocolitis (NEC), bringing together key stakeholders to unite the global community for a world without NEC. The event will feature over 20 educational sessions and world-renowned faculty.
Researchers at the CNIC found that respiratory complex I possesses sodium transport activity essential for efficient cellular energy production. This discovery provides a molecular explanation for Leber's hereditary optic neuropathy and may have implications for other neurodegenerative diseases.
Researchers comprehensively reviewed cerebellar involvement in Parkinson's disease, highlighting the pathophysiological role of the cerebellum in motor and non-motor symptoms. Studies showed abnormal α-synuclein aggregation, neurodegeneration, and altered functional connectivity between the cerebellum and other brain regions.
A new viewpoint review explores the impact of TAAR1 genetic variations on mental health and drug development. The study suggests that rare TAAR1 mutations may contribute to psychiatric symptoms by altering brain function.
Researchers at HudsonAlpha Institute for Biotechnology will use long-read genome sequencing to identify genetic contributors to rare diseases in children. The technology has shown promise in uncovering relevant genetic findings in undiagnosed cases, with early studies suggesting a 5-10% diagnostic success rate.
A new study reveals a connection between metabolic genes and immune system T cells, suggesting a potential new class of inborn errors of immunometabolism. Researchers identified genetic overlap between disorders of metabolism and immunity, pointing to a continuum between the two conditions.
A study by Florida Atlantic University researchers has identified novel players in dopamine signaling using Caenorhabditis elegans. They found that mutations in the BBSome protein complex, which regulates transport and signaling in cells, can lead to rare genetic disorders like Bardet-Biedl Syndrome.
A University of Michigan-led study found that higher levels of metals in blood and urine are associated with a greater risk for ALS and shorter survival. Occupational exposure to metals was also linked to increased metal levels, emphasizing the need for accounting for environmental factors when evaluating overall exposure risk.
A recent study found that 'gene misbehaviour' is a common phenomenon in the healthy human population, with over half of inactive genes showing misexpression. The researchers used advanced techniques to analyze blood samples from 4,568 healthy individuals and identified mechanisms behind these gene activity errors.
Researchers at KAUST have developed NanoRanger, an accurate and rapid method for genetically diagnosing Mendelian genetic disorders. This breakthrough enables diagnosis in just 12 minutes, providing a detailed picture of the genomic disorder.
A new study suggests that even temporary increases in drinking can have lasting effects on bipolar symptoms, but the opposite isn't true. The research found that individuals with bipolar disorder who drink more than typical for them are more likely to experience an increase in depressive and/or manic symptoms over six months.
Researchers developed a machine learning approach to identify potential subtypes in diseases, significantly enhancing disease classification and treatment strategies. The model uncovered 515 previously unannotated disease subtypes.
The RENEW system, launched in 2022, uses new research discoveries to pinpoint genetic variants causing rare diseases. Researchers successfully diagnosed 63 patients out of 1,066 undiagnosed cases with an average diagnosis time of 20 seconds.
Researchers at PNRI reveal how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. These complex rearrangements are caused by segments of DNA switching templates during the repair process, leading to disruptions in normal gene function and contributing to genetic disorders.
Researchers used machine learning to integrate high-throughput transcriptomic, proteomic, metabolomic, and lipidomic profiles to identify four distinct molecular profiles of Alzheimer's Disease. These profiles were associated with varying levels of cognitive function and neuropathological features.
A study by the University of Toronto found that 43% of Canadians with a history of bipolar disorder were symptom-free and 23.5% had achieved complete mental health. Factors contributing to psychological flourishing included having a trusted confidant, using spirituality as coping mechanisms, and absence of disabling chronic pain.
A novel mechanical metamaterial, 'Chaco,' exhibits history-dependent behavior, allowing it to remember the sequence of actions performed on it. This property enables potential applications in memory storage and robotics.
Researchers found that individuals with lower socioeconomic status have a greater genetic susceptibility to developing many complex diseases, while those with higher SES are at increased risk of certain types of cancer. The study aims to improve personalized medicine by incorporating genetic information into healthcare protocols.
Researchers at NeuRA and UniSA found that early detection and comprehensive treatment can lead to significant recovery for most people with Complex Regional Pain Syndrome (CRPS) within 12-18 months. The study reviews the latest advances in CRPS epidemiology, pathophysiology, diagnosis, and treatment.
Researchers identified a spectrum of effects on sodium channel function due to SCN2A variants, with hyperactive channels linked to early seizure onset and underactive channels associated with autism. The study provides insights into the relationship between genetic changes, disease severity, and age of seizure onset.
A new study found that low-level laser therapy (PBM) provides immediate pain relief for Burning Mouth Syndrome (BMS) patients, with a significant drop in pain scores after each treatment. The study also observed a cumulative effect of PBM on alleviating BMS symptoms, especially up to the third treatment.