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.
Researchers discovered the GARS gene responsible for Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V, providing insights into neurological diseases. The study may lead to new treatment approaches and a better understanding of peripheral nerve diseases.
A study published in the American Journal of Human Genetics has identified two overlapping genes on chromosome 13 as increasing susceptibility to bipolar disorder, affecting 2 million Americans. The same gene complex is also linked to an increased risk for schizophrenia.
Researchers studied 65 families with bipolar disorder and found strong genetic 'linkage' to specific regions on chromosomes 13 and 22, suggesting common genes contributing to both bipolar disorder and schizophrenia. These overlap genes may explain why the same anti-psychotic medications are effective treatments for both diseases.
A new gene, Otopetrin 1, has been identified as contributing to the loss of balance. The gene helps regulate otoconia, which detect gravity and maintain balance. Mutations in this gene can lead to balance disorders, but understanding its development may help stimulate otoconia regeneration.
Researchers at Michigan State University have identified a gene responsible for Smith-Magenis Syndrome (SMS), a rare genetic disorder. The discovery suggests that primarily one gene contributes to the phenotype, rather than multiple genes as previously thought.
Researchers at the Salk Institute found a genetic connection between organophosphate exposure and ADHD-like behavior, as well as symptoms similar to Gulf War syndrome. Mice exposed to organophosphates showed a 40% decrease in the NTE enzyme, leading to behavioral changes and neurological problems.
A host gene variant on chromosome 6 has been identified as making people more vulnerable to leprosy. Researchers used genome scanning to analyze DNA samples from nearly 100 families and confirmed the findings in an additional 200 families.
UT Southwestern researchers have identified a gene called twist that regulates muscle development in fruit flies and found it to be crucial in preventing cachexia in mice. The study suggests that the gene down-regulates proinflammatory cytokines, which are involved in various diseases including cancer, arthritis, and asthma.
Researchers discovered a gene mutation associated with a form of Charcot-Marie-Tooth disease, affecting approximately 1 in 2,000 people. The LITAF gene mutation was found in families with a history of the disease, suggesting its potential as a molecular marker for diagnosis.
Researchers have identified the KCNQ1 gene as the primary cause of familial atrial fibrillation, a condition affecting nearly one in 20 individuals over 65. The mutation leads to excessive potassium channel activity, disrupting normal heart rhythms and increasing the risk of heart failure.
Scientists at the University of North Carolina at Chapel Hill have discovered a new role for the BLM gene in repairing DNA breaks, which can lead to cancer. The study found that the BLM gene is essential for maintaining genome stability and preventing chromosome rearrangements similar to those seen in follicular lymphoma.
Researchers at UNC used antisense oligonucleotides to target RNA splicing pathways implicated in cancer and genetic diseases. The technique successfully sensitized cancer cells to chemotherapy and radiation, offering a potential breakthrough for targeted therapy.
A new testing method for Huntington's disease (HSS) has been discovered by researchers at Oregon Health & Science University and UCSF. The test uses magnetic resonance imaging (MRI) to identify the 'eye of the tiger sign' in patients with PANK2 mutations, a gene linked to HSS and Parkinson's disease.
A multicenter study identified a positive association between obsessive-compulsive disorder (OCD) and a serotonergic receptor gene variant. This genetic phenotype may represent an early onset risk factor for the disorder, suggesting age of onset should be considered in molecular genetic studies.
A study found a common genetic link between depression and cardiovascular disease, with increased frequency of specific gene variants in patients with severe depression. The combined presence of ACE-D and G-ß3-T alleles was associated with an elevated risk of cardiovascular disorders and depression.
Pittsburgh researchers identify a genetic change in the UMOD gene responsible for two juvenile onset renal diseases, FJHN and MCKD2. The discovery enables testing of clinically unaffected family members, allowing for early intervention and potential prevention of kidney disease progression.
Scientists have identified small non-messenger RNA molecules, known as smnRNA, in genes associated with behavioral disorders. These findings suggest a new class of gene activity and regulation, potentially linked to conditions like Prader-Willi syndrome.
The National Institutes of Health's NIAMS has funded eight research projects to better understand and treat heritable disorders of connective tissue. These conditions, such as osteogenesis imperfecta and Ehlers-Danlos syndrome, affect millions of Americans and have few effective treatments.
Researchers at Children's Hospital of Philadelphia achieved immune tolerance in mice through prenatal stem cell transplants, enabling donor cells to multiply without toxic side effects. The technique could greatly broaden the use of cell and organ transplants for genetic diseases detected before birth.
A recent study by University of Pittsburgh researchers found a specific gene on chromosome 2q33-35 linked to depressive disorders in women, with no correlation in men. The CREB1 gene encodes a regulatory protein involved in brain function and plasticity.
Researchers at Johns Hopkins have identified a novel gene mutation causing Huntington's Disease-like 2 (HDL2), a condition identical to Huntington's but caused by a different mutation. The discovery provides a window into the mechanisms of brain cell death and could shed light on other neurodegenerative disorders.
A study published in Molecular Psychiatry found a link between a genetic variant of the serotonin receptor gene and obsessive-compulsive disorder. The research suggests that individuals with this variant may be more susceptible to developing OCD, potentially leading to earlier identification and treatment.
A study led by Mark T. Keating found that 13.2% of African-Americans carry an altered form of the SCN5A gene, linked to prolonged contraction of heart muscle cells and arrhythmia risk. The variant can be detected through simple tests, allowing for preventive measures such as avoiding certain medications and monitoring potassium levels.
This month's TLN discusses the role of genetic risk factors in sleep disorders, including narcolepsy and obstructive sleep apnoea syndrome. The study highlights the importance of investigating the effects of mobile phone use on human populations to better understand the complex mechanisms regulating sleep.
Scientists have identified a gene involved in autoimmune disease using molecular techniques on mouse models. The research aims to develop more specific treatments by understanding the role of histamine receptors in autoimmune disease.
A study finds that a lack of physical activity disrupts normal homeostatic mechanisms, leading to an increased risk of chronic conditions. The research highlights the importance of physical activity in preventing common chronic diseases, including cancer, cardiovascular diseases, and metabolic disorders.
A recent study reveals that mutations in the FBN1 gene can cause Marfan syndrome by disrupting an exonic splicing enhancer, leading to exon skipping and compromised fibrillin protein activity. This understanding may help explain other human diseases associated with exon skipping.
Researchers identified a new cholesterol disorder caused by mutations in the CYP7A1 gene, leading to elevated cholesterol levels and increased risk of heart disease. The study found that carriers of the mutation had significantly higher cholesterol levels and were more likely to develop gallstones.
A genetic polymorphism in the PON1 gene has been found to significantly increase stroke risk in young adults by a factor of 4.10 compared to those without the abnormality. The presence of this genetic abnormality also interacts with other risk factors, such as smoking and high blood pressure, to multiply stroke risk.
Researchers created genetically engineered mice lacking keratin 17, a structural protein found in hair follicles, to investigate its role in hair growth. The results show that K17 knockout mice display temporary baldness due to hair fragility and premature cell death, but eventually regrow fur at around three weeks old.
Researchers discovered an autoimmune response to GAD65 enzyme leading to excess glutamate and brain damage in children with juvenile Batten disease. The study suggests immunotherapy may slow progression of the disease, which is fatal by late teens or twenties.
Researchers identified the AGPAT2 gene as the cause of congenital generalized lipodystrophy, a rare disorder characterized by extreme lack of body fat at birth. The disorder leads to severe diabetes, insulin resistance, and metabolic complications in affected individuals.
A study by UC Berkeley's Bruce N. Ames found that megavitamin therapies can effectively treat over 50 genetic diseases, mostly rare metabolic disorders due to defective enzymes. High-dose vitamins, particularly B vitamins like niacin and thiamine, may also improve metabolism in older populations.
Studies reveal connections between the serotonin transporter gene SLC6A4 and autism, as well as a potential link between the glutamate receptor 6 (GluR6) gene and the syndrome. The findings contribute to a deeper understanding of the genetic underpinnings of autism.
A study by Pitt researchers found that men and women have different genetic markers associated with severe depression, which may lead to better diagnosis and treatment strategies. The findings suggest that sex-specific genes for recurrent major depression may be the rule rather than the exception.
A new UCLA study finds that 'sweaty palms' syndrome is caused by a dominant gene, affecting up to 5% of the population. The disorder can significantly impact daily life and career, with symptoms including excessive sweating in hands and feet.
A large DNA-based study revealed that only a small percentage of people with the genetic mutation for hereditary hemochromatosis develop symptoms. Most individuals with the mutation remain asymptomatic and do not experience the disease's life-shortening effects.
Researchers investigate genetic link between Prader-Willi syndrome and psychotic illness, finding association with a sex-specific imprinted gene on chromosome 15. The study suggests that allelic variation of this gene could be a cause of genetic vulnerability to psychotic illness in the general population.
Scientists discover that the 'Sleeping Beauty' transposon can deliver gene sequences to correct congenital blood and immune system disorders prenatally. Jakub Tolar's presentation also shows bone marrow stem cells engraft and differentiate into brain and liver cells after in utero transfer.
Researchers found that Helicobacter pylori infection was more common in patients with hereditary angioneurotic oedema, a genetic disorder causing non-itchy swellings. Eradicating the infection improved abdominal symptoms and reduced episodes of acute pain.
A new study by UCLA researchers has created images showing how an individual's genes affect their brain structure and intelligence. The findings, published in Nature Neuroscience, reveal that genetic differences can significantly impact brain regions controlling language and reading skills.
Researchers have determined the function of the Hairless protein, revealing its role in regulating gene expression dependent on the thyroid hormone receptor. The discovery provides molecular insight into congenital hair loss disorders and represents a stepping stone for designing therapeutic agents.
Mutations of the Lkb1 gene cause Peutz-Jeghers syndrome, a disorder characterized by polyps in the intestines and increased risk for cancerous tumors. Researchers found that Lkb1 regulates the formation of heart and blood vessels in embryos.
The Mayo Clinic emphasizes the need for quality web-based genetics information for patients and physicians. Researchers found that patients often turn to the internet for genetic information, but may find it confusing and inaccurate. Centralizing access to reliable websites and improving readability could address these issues.
Researchers at Yale University have identified a genetic cause of high blood pressure, a condition that affects 25% of adult populations. The study found two genes that contribute to the disease, which is linked to increased salt reabsorption and diminished potassium secretion in the kidneys.
A study of 347 patients found that CoQ10 slowed the decline of patients with Huntington's disease by an average of 15 percent, improving cognitive skills and daily responsibilities. However, the results are inconclusive due to limited patient numbers, and more research is needed before CoQ10 can be recommended as a treatment.
A clinical study of 800 people with Long QT Syndrome found that an individual's own characteristics and electrocardiogram findings are the major determinants of risk for sudden death. This challenges the long-held assumption that family history plays a role in determining the risk.
Couples seeking preimplantation genetic diagnosis (PGD) for single gene disorders or to avoid chromosomal abnormalities have differing views on embryo destruction and genetic trait selection. The study found that most couples prioritize having a healthy child over preventing genetic transmission of inherited mutations.
Researchers have identified a genetic mutation, FOXL2, responsible for early onset of menopause in some women, who may also be born with blepharophimosis. The discovery sheds light on the role of genetics in age-related changes and may lead to new insights into aging and reproductive health.
A Duke University study reveals that long-term genetic instability in cancer cells can be induced by stresses beyond DNA damage, including nutrient starvation and heat. This persistent genetic instability may play a key role in carcinogenesis and could help explain the large number of mutations seen in cancer cells.
Researchers have discovered a crucial genetic element that regulates alpha-synuclein protein activity, which is involved in both inherited and non-inherited forms of Parkinson's disease. By identifying this element, scientists hope to gain insights into the underlying mechanisms of the devastating disease.
Researchers have identified a new genetic risk factor for late onset Alzheimer’s disease on chromosome 10, which may interact independently of the APOE4 gene. The study found a potential mechanism linking this region to elevated amyloid-beta levels in the brain, suggesting new therapeutic opportunities.
Scientists at Baylor College of Medicine identified new genes involved in RNA processing, transcriptional regulation, and detoxification that contribute to neurodegenerative diseases. The discovery provides new insight into the disease process and may lead to the development of drugs to slow or halt degeneration.
Researchers have identified a genetic cause for immunoglobulin A nephropathy (IgAN), the most common form of glomerulonephritis worldwide. The gene, located on chromosome 6, is linked to the disease in about 60% of families studied.
A University of Iowa study found that individuals who test negative for Huntington disease often experience doubts and guilt rather than relief. They struggle to redefine their goals and purpose in life after learning they don't carry the gene mutation.
New research found that 13 of 50 people with primary pulmonary hypertension shared a genetic defect in the BMPR-II gene, similar to those with familial forms. This discovery has important implications for treatment and future therapies focused on altered cell signals.
Researchers discovered a high incidence of Alzheimer's disease in an Arab community, suggesting a possible role for a previously unknown recessive gene. DNA analysis revealed that only 4% of participants carried the apolipoprotein E-4 gene variant, lower than expected rates in other populations.
A team of researchers has discovered the gene responsible for Mucolipidosis IV, a rare genetic disorder affecting Ashkenazi Jews. The newly identified gene is linked to impaired fat breakdown, leading to accumulation of fats and sugars in lysosomes.
Researchers analyzed biologic, chemical, and genetic mechanisms to understand how SCA2 gene mutations cause damaged nerve cells. They found basic mechanisms in SCA2 cells differ from other genes associated with neurodegenerative diseases, suggesting new treatment possibilities for ataxia and related conditions.
Researchers find nearly 99% identity in X and Y chromosome regions, revealing a much smaller difference in mutation rates. This discovery suggests that genetic-disease-producing mutations must be explored for individual underlying causes, potentially changing the understanding of inherited diseases.