Articles tagged with Genetic Disorders
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.
Scientists have identified a class of mammalian lncRNAs that evolved from ancestral genes, gaining regulatory powers and serving as master switches in various biological processes. These 'recycled' genes may hold the key to understanding human diseases and developing new treatments.
A genetic mutation in the CLPX gene has been identified as a potential cause of erythropoietic protoporphyria (EPP), a form of porphyria that may have inspired vampire folklore. The discovery highlights the complex genetic network underlying heme metabolism and holds promise for future therapies.
Researchers have discovered ultra-rare gene mutations associated with eating disorders, targeting a pathway involved in appetite regulation and inflammation. The findings suggest potential new treatments for these conditions, particularly for bulimia nervosa.
Researchers used gene therapy with LeXis, a 'junk DNA' suppressor of cholesterol, to reduce plaque in mice with familial hypercholesterolemia. The treatment lowered cholesterol and blockages in arteries, and appeared to reduce fat build-up in liver cells.
Researchers detect granulins inside cells for the first time, suggesting a potential FTD treatment strategy by targeting lysosomal function. The discovery may have therapeutic potential for Alzheimer's disease and Parkinson's disease as well.
A research team has identified two genes, NRXN1 and CNTN6, that are significantly modified in people with Tourette syndrome. These genes encode proteins involved in cell fusion in the nervous system and are linked to an increased risk of developing the condition.
Researchers successfully corrected a genetic mutation causing hypertrophic cardiomyopathy in human embryos, preventing its inheritance. The technique could apply to thousands of inherited genetic disorders and increase IVF success rates.
Researchers have discovered a new gene involved in Fanconi anaemia, a rare genetic disease affecting bone marrow and causing congenital defects. The RFWD3 gene was found to be related to DNA repair and mutations were detected in a child with the disorder.
A recent study using three genetic sequencing technologies found that late-breaking mutations occurring after conception are linked to autism spectrum disorder (ASD). These mutations, known as post-zygotic mutations, were discovered in a subset of cells and disproportionately affect the amygdala.
The Phase 3 clinical trial data showed statistically significant and clinically meaningful improvements in functional vision and visual field in participants with RPE65-mediated inherited retinal disease. Participants demonstrated marked gains in full-field light sensitivity and peripheral vision.
A NIH-funded study suggests that children's visual engagement is heritable and altered in autism, with identical twins showing synchronized eye movements and reduced attention to face regions. Researchers found that genetic factors influence social behaviors, which can help identify new treatments for autism.
Researchers have successfully delivered a gene therapy to the brains of mice with mucopolysaccharidosis type 1, preventing neurologic deficits. The noninvasive intranasal approach shows promise for treating genetic disorders affecting the brain.
Nicholas Katsanis, Director of the Center for Human Disease Modeling at Duke University, receives the 2017 Curt Stern Award for his groundbreaking research on ciliary disorders. The award recognizes his work on signaling roles of cilia and mechanisms behind rare genetic disorders.
A study found that hoarding symptoms are heritable and moderately stable between 15-18 years old, suggesting genetic effects play a significant role. The findings could help inform treatments development for young people experiencing hoarding symptoms, preventing potential progression into Hoarding Disorder as adults.
Researchers discover a new link between Zellweger syndrome and sugar metabolism, finding that the condition affects both lipid and carbohydrate pathways. This breakthrough could lead to new treatments for the rare disease.
A study published in Neurology found that approximately 17% of ALS cases are caused by gene mutations, with rare and likely harmful variants being more common in those with the disease. The research highlights the importance of genetic factors in ALS development and suggests a larger percentage of sporadic cases may be linked to genetics.
A new disease gene, MCM3AP, has been identified as causing early-onset axonal neuropathy and mild intellectual disability in multiple families worldwide. The gene was discovered using a global genetic matching platform, connecting patients and researchers from Finland to countries like Australia, Canada, Turkey, and Belgium.
Researchers have developed a new fruit fly model to investigate the link between proline metabolism and aggression in neuropsychiatric disorders. The study found that disrupting a specific protein in the brain can induce increased aggression, highlighting the importance of precise regulation of proline metabolism for normal behavior.
A novel gene defect has been identified as the cause of a severe skin blistering disorder in Central Asian Shepherd dogs. The defect, found in the COL7A1 gene, leads to the absence of collagen, causing fragile skin and blisters.
A new study identifies key genes linked to the Galapagos cormorant's loss of flight, which shares similarities with human developmental disorders. The research suggests that shorter wings may have been advantageous during diving, reducing buoyancy and increasing survival.
Research identifies CRKL gene as crucial for normal genitourinary development, with gene dosage changes associated with developmental abnormalities. The study's findings have significant implications for initial patient diagnosis and potential treatments for individuals affected by DiGeorge syndrome.
A new control mechanism for the Opitz syndrome gene has been discovered, revealing a previously unknown cell signaling pathway. This finding could lead to the development of new treatments targeting this pathway.
Scientists identified a key gene, MDR1, governing toxin removal in the gut, which is linked to bowel disorders like Crohn's disease. Targeting vital cell parts with drugs can reverse damage and improve outcomes.
Researchers identified a genetic locus on chromosome 12 associated with anorexia nervosa, which also shows correlations with neuroticism and schizophrenia. The study suggests that anorexia may have both psychiatric and metabolic roots, potentially leading to new treatment opportunities.
Scientists at MU used whole genome sequencing to identify genetic variants causing rare diseases like progressive retinal atrophy and Niemann-Pick type 1 in domestic cats. This helps feline preservationists implement breeding strategies for endangered species.
Researchers at Case Western Reserve University developed a gene-carrying nanoparticle that delivers healthy RPE65 genes to photoreceptor cells, preventing vision loss in mice with Leber congenital amaurosis. The therapy's success indicates promise for treating other inherited visual disorders.
Researchers identified a genetic mutation responsible for keratolytic winter erythema (KWE), a rare skin disorder prevalent among Afrikaners. The discovery enables dermatologists to diagnose KWE in patients and provides a starting point for developing potential treatments.
A worldwide consensus aims to diagnose most rare genetic diseases by 2020 through international cooperation and data-sharing. Despite advances in technology, the genetic mutations behind half of known rare genetic diseases remain a mystery.
Researchers found that new genes are more likely to appear in full form rather than gradually evolving through proto-genes. This is because non-coding DNA sequences give rise to highly ordered proteins, which are often deleterious to the organism.
Researchers used stem cells from patients with Angelman syndrome to identify the underlying cellular defects that cause the disorder. They found that brain cells fail to mature, disrupting synaptic connections critical for learning and cognitive development.
Researchers have created a promising mouse model for the devastating genetic disorder NGLY1 deficiency. The double-deletion mice survive and exhibit symptoms analogous to humans with the condition, making them useful for testing potential therapies.
A research team at St. Jude Children's Research Hospital has revealed a previously unknown immune machinery underlying neutrophilic dermatosis, a group of autoinflammatory skin disorders. By mapping the biological pathways involved, the researchers identified key molecules and signaling nodes that drive inflammation and tissue damage.
Researchers have discovered a potential treatment for ALS and spinocerebellar ataxia 2 using gene silencing technology. The drug, an antisense oligonucleotide, reduces problems associated with SCA2 by silencing the ataxin 2 gene.
Researchers identified a key mutation in a tumor suppressor gene as the cause of a rare genetic disorder that leads to myelodysplastic syndrome. Children with this condition develop a shortage of normal blood cells due to disrupted bone marrow function.
Researchers at JAX will study mouse models of inherited RPE-driven disease to identify potential molecular pathways for druggable targets. Their goal is to prevent, delay onset or decrease the severity of age-related macular degeneration and other heritable retinal diseases.
A team of researchers has identified the cause of a rare genetic disorder known as dystonia, which affects 70,000 people in the UK. The study found that mutations in the hippocalcin gene lead to overactivation of specific calcium channels, causing abnormal neuronal signaling and movement disorders.
The Muscular Dystrophy Association (MDA) and the Charcot-Marie-Tooth Association (CMTA) have awarded a $119,999 grant to study gene therapy for CMT1X. The two-year research project aims to examine the effectiveness of repeated injections and treatment at later stages of the disease.
A new Michigan State University study found that refugees diagnosed with post-traumatic stress disorder (PTSD) have an overactive gene associated with mental health that disrupts their stress defense system. This causes the body to overreact to stress, leading to increased symptoms of PTSD.
Researchers at the University of Helsinki have identified a novel gene associated with acute respiratory distress syndrome (ARDS) in Dalmatian dogs. The gene study found that the disorder results from a defect in an anillin protein which binds to actin, leading to abnormal regeneration capacity of the bronchiolar epithelium.
A team of scientists at the University of California San Diego has created a cellular model of anorexia nervosa using induced pluripotent stem cells, revealing a potential genetic link to the disease. The study identified a novel gene, TACR1, that may contribute to the development of eating disorders.
Researchers found master genes that control hundreds of other genes linked to various neurological and psychiatric disorders. The study suggests that modifying these master genes could lead to new treatments for brain diseases.
Researchers identified an enzyme called CYP46A1 that eliminates both cholesterol and cholestanol from the brain, reducing the formation of debilitating brain lesions. The discovery could inform clinical trials to test the enzyme's potential as a therapeutic target for these diseases.
Researchers at University of Pittsburgh found a potential inverse relationship between schizophrenia and rheumatoid arthritis, with eight genes showing opposing effects on risk. The study suggests that immune system dysfunction may play a role in both disorders.
Researchers from the University of Würzburg discovered four variants of the GLRB gene associated with anxiety and panic disorders, triggering an
Researchers uncovered 91 genes linked to neurodevelopmental disorders, including 38 previously unknown risk factors. The study found overlap between conditions like autism and intellectual impairments, with some genes associated with both. Additional findings suggest less severe mutations may cause autism without intellectual disability.
A Northwestern University study found that eliminating certain receptor genes in mice leads to obsessive-compulsive disorder (OCD)-like behaviors, such as excessive grooming. The research provides strong evidence for the biological basis of OCD and may lead to new treatments for the disorder.
A new genomic technique has been devised to quickly and accurately detect imprinted genes expressed in each cell type, improving diagnosis of genetic diseases like Prader-Willi and Angelman syndrome. Researchers have identified novel imprinted genes and demonstrated their tissue-specific expression.
Researchers have identified additional genes that may contribute to the metabolic disorder TMAU, suggesting that genetic testing may not be sufficient to identify all cases. This new insight provides reassurance to those who report fish-like odor symptoms without mutations in the FMO3 gene.
Researchers identified key genes in copy number variants (CNVs) associated with neurodevelopmental disorders, including autism, schizophrenia, ADHD, and intellectual disability. These genes have a 'Goldilocks' effect, requiring precise duplication levels to function properly.
Researchers at the University of Montreal Hospital Research Centre have identified a new syndrome in mice with deleted Armc5 gene, characterized by adrenal gland abnormalities and immune system compromise. The study opens up new avenues for understanding and treating diseases linked to the ARMC5 gene.
A new device, SEEKER™, has received FDA clearance to detect four types of lysosomal storage disorders from dried blood spots. This development was made possible with NIH funding and shows a faster screening process compared to conventional methods.
Researchers have discovered 30 genes as potential therapeutic targets for reversing Rett syndrome, a severe form of an autism spectrum disorder affecting approximately 15,000 girls and women globally. The study, led by Dr. Antonio Bedalov at Fred Hutchinson Cancer Center, aims to reactivate the silenced MeCP2 gene in affected individuals.
Researchers at MUSC have identified novel potassium channel genes that correlate with drinking levels and may advance personalized medicine approaches for treating heavy drinking. A KV7 channel-positive modulator reduced heavy alcohol consumption in mouse models, suggesting these genes as promising therapeutic targets.
A complete clinical and genetic profile of steroid 11-hydroxylase deficiency has been identified, a rare inherited disorder causing genital masculinization in females. The study may lead to prenatal diagnosis and treatment to prevent genital ambiguity.
Genome editing offers promise for treating genetic disorders but raises major technological and ethical concerns. The ACMG Board of Directors emphasizes the need to overcome current limitations and address issues such as off-target effects and epigenetic marks.
Researchers have discovered two novel genetic risk factors for bipolar disorder, FADS1 and FADS2, which play a crucial role in lipid metabolism. These findings support the notion that lipid abnormalities may contribute to the development of BD.
A study at Columbia University Medical Center found that a missing CRKL gene causes kidney and urinary tract defects in people with DiGeorge syndrome. The team analyzed genomic data from over 2,600 children with congenital anomalies of the kidney and urinary tract.
A recent genetic study discovered 14 new developmental disorders in children, providing diagnoses for over 1,000 individuals and their families. The study revealed that nearly 400,000 annual births worldwide are affected by rare developmental disorders caused by spontaneous mutations.
A new genetic immunodeficiency has been characterized, allowing for the identification of patients at risk of fatal illnesses. Researchers have developed a unique platform to detect subtle immune system defects, enabling clinicians to provide timely treatments and preventive measures.
Researchers successfully used CRISPR-Cas9 technology to repair genetic mutations in blood stem cells of patients with chronic granulomatous disease, a rare and life-threatening disorder. The engineered cells maintained their gene edits long-term without side effects when implanted into mice.