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 study of 50 pairs of fraternal twins with hearing loss identified a specific region of DNA, DFNA18 on chromosome 3, that may contain an important locus for hearing loss in the general population. The findings suggest variation in genes within this region could lead to differences in susceptibility to hearing loss.
Researchers at Yale University found that myelin physically limits axonal growth and regeneration after traumatic injury. Blocking vision in one eye normally alters ocular dominance only during critical development, but mutations in the Nogo-66 receptor affect abnormal plasticity later in life.
A new Stanford study has found that self-identified racial and ethnic groups correlate strongly with their genetic profiles, with an error rate of less than 0.14%. The research, involving 3,636 participants, challenges the idea that race is a social construct with no genetic basis.
A team of Hopkins researchers is using new genome searching technologies to identify genetic factors contributing to autism. They will analyze data from 465 families and 979 individuals with autism, focusing on rare genetic mutations and extra or missing gene copies.
A Stanford study reveals that shared genetic data can be linked to individuals through common DNA sites, raising concerns over patient anonymity. The researchers propose firewalls and secure access controls to protect sensitive genetic information.
Researchers Drs Sun and Arceci find that loss of PASG gene results in reduced genomic methylation and premature aging in mice. The study reveals a potential model for studying aging and epigenetic regulation, with implications for cancer predisposition and therapeutic targeting.
A new study by Northwestern University researchers reveals that nearly 80% of patients have a moderate or high genetic risk for adult-onset conditions. Using family history questionnaires and three-generation pedigrees, the team identified twice as many individuals at increased risk than documented in patient charts.
Researchers found two Navajo patients missing the osteoprotegerin gene, leading to a rare bone disorder characterized by fast bone formation and breakdown. The study provides a genetic cause for Juvenile Paget's Disease (JPD) and sheds light on bone metabolism control.
The new section aims to explain the relevance of new research in genetics and molecular biology to practising clinicians. Key findings include associations between genetic sequences and disease, as well as the potential of proteomic analysis to further our understanding.
A study by UW researchers found that genetic taste markers do not affect the enjoyment of chocolate, and that sweetness and fat can mask bitter flavors. The study showed that women who were more sensitive to bitter tastes preferred lattes over straight espresso coffee.
Researchers at University of Wisconsin-Madison have identified the genetic basis of Alexander disease, a rare and devastating childhood brain disorder. The discovery confirms mutations in the GFAP gene as the cause, leading to an abnormal protein buildup that damages the nervous system.
A recent study published in the Proceedings of the National Academy of Sciences found that Jewish men share a common set of genetic signatures with non-Jews from the Middle East, including Palestinians, Syrians, and Lebanese. This suggests that Jews and Arabs are more closely related to one another than to non-Jews from other areas of ...
Researchers identified a biological marker that predicts breast cancer return in some women, with higher levels of damaged p53 protein found in those whose cancer recurred within four years. The finding may lead to personalized treatments, such as higher doses of radiation and novel therapies.
Researchers are conducting a national genetic study to identify the genetic markers that contribute to Parkinson's disease. The study aims to enroll 600 pairs of siblings with Parkinson's disease, using information from the U.S. Human Genome Project to isolate genetic markers.
A genetic defect in the norepinephrine transporter has been identified as a key player in orthostatic intolerance, a condition that causes racing hearts, nausea, and dizziness. The discovery may lead to new understanding of blood pressure control and treatment strategies for this common clinical problem.
A recent Yale Cancer Center study reveals that many experienced cancer genetic counselors would pursue genetic testing for BRCA or HNPCC mutations despite concerns about discrimination. However, the majority would not bill insurance companies or use aliases, and would only share test results with physicians.
A Mayo Clinic study found that a genetic defect known as long-QT syndrome may be the cause of many unexplained drownings. The research identified a genetic mutation in a 19-year-old woman who died after a near-drowning, and subsequent testing revealed that her mother and sister also had inherited the condition.
A genetic trait has been found to predispose people to Gulf War syndrome, a condition where veterans of the war may have gotten ill from chemical exposures. The study reveals that people with high levels of a specific enzyme did not get sick, while those with low levels did.
A team of researchers has determined that a gene on chromosome 12, previously suspected to be a strong genetic risk factor for Alzheimer's disease, cannot be replicated. Despite the initial findings, there is strong evidence for another genetic defect elsewhere on the chromosome that causes Alzheimer's disease.
Scientists have uncovered a genetic cause for urinary tract disorders, linking GATA-2 protein to proper genitourinary tract development. The finding paves the way for diagnostic and treatment strategies for bladder and kidney disorders in newborns.
A team of scientists found a shared genetic marker among Jewish priests, linking them to the Biblical high priest Aaron and confirming ancestral ties between Sephardi and Ashkenazi communities. The study estimated the most recent common ancestor lived between Exodus and Temple destruction around 586 B.C.E.
Research found genetic make-up plays a significant role in determining individual responses to cholesterol-lowering drugs like Lovastatin. A gene variant associated with unresponsiveness was identified, suggesting that 1 in 12 individuals may not benefit from the treatment.
Researchers found a genetic mutation that increases susceptibility to allergies, making individuals 10 times more likely to develop allergies. The discovery could lead to targeted medications and help identify high-risk individuals for intervention strategies.
Researchers at Johns Hopkins Medicine found that the gene KVLQT-1 is imprinted nearly everywhere in the body, but not typically in heart cells. This selective imprinting may explain why changes to the gene have different effects on heart rhythm and growth disorders.
Researchers at Duke University have developed a new approach to gene therapy that uses enzymes to edit faulty genetic messages in living cells. The study, published in Nature Medicine, demonstrates the potential for correcting genetic defects and may lead to treatments for diseases such as sickle cell anemia and AIDS.