Articles tagged with Genetic Disorders
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Researchers at Mayo Clinic have found a novel theory about how the insulin-degrading enzyme (IDE) gene influences the risk of Alzheimer's disease. The study suggests that too little IDE expression may promote disease development, while increased expression appears to protect against it.
Researchers sequenced Dr. James Lupski's genome to identify the gene responsible for his form of Charcot-Marie-Tooth syndrome, affecting nerves in limbs, hands, and feet. The discovery also found that a person carrying one recessive mutation is susceptible to carpal tunnel syndrome.
Scientists have identified a region of chromosome 5 associated with eosinophilic esophagitis (EoE), a rare allergic disease. The study suggests that the thymic stromal lymphopoietin (TSLP) gene may play a role in EoE, and future research may lead to a genetic test and treatments.
Dr. Andrew Fraser's research focuses on using worms to identify how genetic background affects disease risk, with implications for human health. By studying natural isolates of the worms, researchers can look at how genetic mutations affect phenotypes within a species, providing insights into predictability and variability.
A UCLA study sheds light on why gene variants can only partly explain common disorders, and how environmental factors contribute to disease risk. The research highlights the importance of considering interactions between genes and their environment in genetic research.
Scientists have discovered a new gene, TSPAN12, that is faulty in patients with Familial Exudative Vitreoretinopathy (FEVR), a type of inherited blindness. The research found that mutations in this gene can cause FEVR by disrupting blood vessel development in the retina.
A study has identified three genes associated with stuttering in volunteers from Pakistan, the US, and England. Mutations in these genes have been linked to other metabolic disorders, suggesting a possible inherited component to stuttering.
Researchers identified a gene variant that affects mice's response to natural hormone fluctuations, leading to increased anxiety and impaired memory. The study suggests the gene may play a role in premenstrual dysphoric disorder (PMDD) and other menstrual cycle-related disorders.
About 5 million women in the US suffer from polycystic ovary syndrome (PCOS), a metabolic disorder causing infertility and obesity. Women are often told they are too fat, leading to delayed diagnoses, expert Andrea Dunaif advocates for increased awareness and treatment.
Researchers at Johns Hopkins University found a link between genes and navigation abilities in humans. People with Williams syndrome, a rare genetic disorder, struggle with reorientation tasks, indicating impaired mental visualization of room layouts.
Recent studies found a link between low-level lead exposure and ADHD symptoms, including hyperactivity and impulsivity. Lead is thought to disrupt brain activity, causing altered psychological processes supported by these neurons.
Researchers have identified genetic risk markers for post-infectious irritable bowel syndrome (PI-IBS) in victims of the Walkerton tainted drinking water tragedy. The study, led by McGill PhD Alexandra-Chloé Villani, found that genetic factors play a critical role in the development of PI-IBS.
A Tel Aviv University expert reviews the links between autoimmune diseases, infections, genetics, and the environment. Environmental factors such as hairspray, lipstick, second-hand smoke, food chemicals, and UV exposure are found to trigger the onset of autoimmune diseases like rheumatoid arthritis and lupus.
Research suggests that migraines and depression share a common genetic link, particularly in those with migraine with aura. The study found that 56% of migraine traits are explained by genetic factors, with heritability scores indicating a shared genetic pathway between the two disorders.
Researchers have discovered a common mechanism underlying many diseases of excitability, characterized by overactivity of cells relying on electrical currents. The mutations alter the opening of sodium channels, leading to rapid resurgent currents that trigger second electrical impulses.
Researchers have identified a molecular scaffold that bridges the two rare inherited disorders, revealing how cells repair damaged DNA. The study suggests that disruption of this interaction leads to similar chromosomal repair defects in both Fanconi anemia and Bloom's syndrome.
Researchers discovered a molecular switch that prevents Huntington's disease from developing in mice, providing new hope for treating the genetic disorder. The study suggests that phosphorylation of specific amino acids near the huntingtin protein can prevent the onset of symptoms.
An international team of researchers has identified a gene associated with DFN2, a rare form of progressive deafness that primarily affects males. The discovery offers therapeutic implications and may lead to treatments for other types of deafness.
Research found four alterations in RORB gene associated with pediatric bipolar disorder, linking circadian rhythm abnormalities to the condition. The study suggests that clock genes may be important candidates for further investigation into bipolar disorder's molecular basis.
A recent study published in Neurology reveals that nearly 42% of participants with frontotemporal dementia had some family history, while only 10% were affected by an autosomal dominant gene. The study also found that behavioral problems are more likely to be hereditary than language problems.
Researchers at Caltech have shown that a highly specific intrabody can stall the development of Huntington's disease in various mouse models. The treatment successfully attenuated symptoms and increased life span by targeting an amino-acid sequence unique to the mutant huntingtin protein.
Researchers developed a molecular diagnostic tool that uses targeted genetic sequencing to screen for variations in 362 genes associated with mitochondrial disease. The new method accurately identified the mutation underlying each patient's condition, increasing sensitivity for diagnosing previously unknown genes.
Researchers have identified childhood risk factors for developing substance use disorders, including increased body sway and reduced P300 amplitude. These early markers can help predict an individual's likelihood of developing a substance use disorder by young adulthood.
Classifying molar pregnancy is crucial for clinical treatment due to increased risk of persistent gestational trophoblastic disease. Researchers used STR genotyping and p57 immunohistochemistry to differentiate complete hydatidiform moles from partial moles and non-molar specimens.
A new study found that carriers of Gaucher disease face a significantly higher risk of developing Parkinson's disease, with the risk being 5 times greater than the general public. The study also found that GBA alterations increase the likelihood of early disease onset.
Researchers at Baylor College of Medicine have identified a potassium channel KvLQT as the molecular trigger for sudden death in epilepsy. This discovery could lead to a simple genetic screening test to identify patients at risk, offering effective treatments such as beta blockers and cardiac pacemakers.
A Stanford University researcher has pinpointed the mechanism by which a gene associated with both autism and schizophrenia influences behavior in mice. The study identified behavioral changes in the mice similar to some symptoms of autism and schizophrenia, highlighting the complexities of cognitive disorders.
Researchers identified a genetic defect that selectively affects white blood cell production, potentially predisposing individuals to inflammatory bowel disease. The study's findings may provide insight into why IBD develops and help inform future treatment strategies.
A new type of genetic change, a second copy of an entire gene, has been identified as a cause of familial chordoma, a devastating and rare form of cancer. The T (Brachyury) gene duplication was found in patients with the disease, but its exact mechanism is unknown.
Dr. Roger Rosenberg has been awarded the first Medal for Scientific Achievement by the World Federation of Neurology for his contributions to Alzheimer's disease research. The award recognizes his work on molecular genetics and a vaccine against the disease.
Researchers identified two chemicals that correctly process essential proteins in cells, potentially leading to new treatments for cancers and neurodegenerative diseases. This breakthrough could benefit millions of people worldwide suffering from genetic disorders, including ataxia-telangiectasia and muscular dystrophy.
Scripps Research scientists successfully corrected a genetic defect in mice with cystinosis, a rare and devastating disorder. The treatment involved bone marrow stem cell transplantation, which significantly reduced cystine levels and improved symptoms.
Researchers at Mayo Clinic have discovered a single gene promoting development of essential tremor in some patients and Parkinson's disease in others. The study found a significant association between the LINGO1 gene variant identified in Iceland to both disorders, with mutations potentially responsible for five percent of patients.
A new candidate gene for Specific Language Impairment has been identified on Chromosome 6, associated with variability in language, speech, and reading abilities. The findings suggest multiple genes contribute to language impairment, overlapping strengths or deficiencies across speech, language, and reading.
Researchers discovered that genetic material regulators beyond the SHOX gene itself play a crucial role in developing growth disorders. A study of 893 patients with short stature found that enhancer mutations, far from the affected gene, can cause the same clinical symptoms as direct gene mutations.
The study uncovered the unlikely genetic suspect, FOXC1, which critically contributes to Dandy-Walker malformation, a brain defect causing mental retardation and motor delays. The discovery provides new mechanisms and potentially improves treatment for the disorder, offering insights into embryonic brain development.
Researchers from Université de Montréal and McGill University have engineered an enzyme that resists harmful agents like methotrexate, a breakthrough in treating genetic diseases. The study's discovery provides new avenues for therapies to combat conditions like leukemia.
A study analyzing rare genetic disorders suggests that maternal and paternal genes continue to interact well into childhood, potentially influencing the pace of growth and sexual maturity. This ongoing interplay may be responsible for humanity's unusual extended childhood and unique life history patterns.
Researchers at Mayo Clinic have discovered a mutated gene linked to restless legs syndrome, affecting 5-11% of the population. The study suggests that this genetic mutation may be a key factor in understanding the condition, which causes unpleasant sensations in the legs at rest.
A study at Penn State has identified over 16,000 active genes in mouse brains during embryonic development and post-natal stages. These genes are linked to cognitive and sensory abilities and may hold the key to developing treatments for neurological disorders such as autism and Alzheimer's disease.
Researchers at Baylor College of Medicine have identified a single gene mutation responsible for catastrophic epilepsy, a condition marked by severe muscle spasms, persistent seizures, and mental retardation. The discovery provides a new model for studying the disease and has sparked hope for potential treatments.
Researchers found rare copy number variations in genes of children with autism spectrum disorders but not healthy controls. The study identified two novel genes, BZRAP1 and MDGA2, thought to be important in synaptic function and neurological development.
Researchers identified a small set of genes responsible for mental retardation by comparing human DNA with mouse genome disruption data. The study found that genomic deletions and duplications frequently cause the disorder, enabling genetic testing and diagnosis.
Researchers at Baylor College of Medicine have identified the FOXF1 transcription factor gene as responsible for a rare and deadly developmental disorder of the lungs, alveolar capillary dysplasia with misalignment of pulmonary veins. The discovery may lead to easier diagnosis and counseling for families affected by the disease.
Researchers have successfully generated genetically corrected blood cells from skin cells of Fanconi anemia patients using gene therapy and cell reprogramming techniques. This breakthrough could lead to the development of a new treatment for the disease, which affects the bone marrow and causes a lack of white blood cells.
A recent study in PLoS Biology has identified the crucial role of cohesin proteins in human gene expression, shedding light on Cornelia de Lange syndrome. The research found that dysregulation of cohesin affects hundreds of genes, leading to unique gene expression profiles.
Researchers at UCLA have discovered a link between a variant of the CACNA1G gene and increased autism risk in boys. The study found that nearly 40% of the population carry the common variant, which increases the correlation to autism spectrum disorder.
A UNC-Duke study found that impaired brain plasticity in mice with Angelman syndrome is linked to severe cognitive deficits. The researchers discovered a latent ability for brain cells to express plasticity, which could lead to new treatments or a cure for the disorder.
Researchers identify protein-protein interaction as a key factor in vision loss among people with genetic diseases, including Bardet-Biedl Syndrome. The study provides a blueprint for unraveling variations in other genetic diseases.
The March of Dimes has awarded a $250,000 prize to Kevin P. Campbell and Louis M. Kunkel for their pioneering work identifying the genes and proteins that cause muscular dystrophy. Their research has led to better diagnostic tools and potential treatments, improving the lives of over 250,000 Americans affected by the disorder.
A recent genetic study has confirmed the immune system's role in narcolepsy, revealing that autoimmunity plays a crucial part in the disorder. The study found unique variants of genes HLA-DQB1*0602 and TCRA associated with narcolepsy-cataplexy.
Researchers have identified a genetic variant that impairs communication within the brain, increasing the risk of schizophrenia and manic depression. The study found altered brain activity patterns, particularly between the dorsolateral prefrontal cortex and other regions.
Two studies identify genes that may contribute to autism, including a region of chromosome 5 associated with neuronal cell-adhesion molecules. These findings suggest a significant role for genetics in the development of autism, potentially leading to new treatments.
Researchers at UCLA have identified a gene mutation responsible for short-rib polydactyly syndrome, a deadly disorder that kills newborn babies. The discovery will allow for earlier testing of embryos at risk for the disease, potentially saving lives and reducing the emotional burden on families.
Researchers at Vanderbilt University Medical Center discovered that the clinically available drug flecainide prevents potentially lethal arrhythmias in patients with CPVT. In two patients, flecainide prevented exercise-induced ventricular arrhythmias and allowed them to live normal lives.
A groundbreaking study at Brandeis University has shed light on a crucial step in the complex process of genetic encoding for the first time. The researchers report that they were able to crystallize a large complex of a macromolecular machine in the human cell and determine its structure, zeroing in on the process of RNA splicing.
Dr. Roberta A. Pagon, a renowned medical geneticist, has received the March of Dimes/Colonel Harland Sanders Award for her groundbreaking work in developing the public database genetests.org, which helps doctors analyze genetic tests for making informed medical decisions.
Recent studies in epigenetics provide new understanding of how environmental factors influence brain function and behavior, potentially explaining the complex nature of mental illness. Epigenetic changes can be long-lived and influenced by life experiences, psychotropic drugs, and psychotherapy.
Scientists at Johns Hopkins Medicine used genome scanning to locate a mutation in the PALB2 gene, responsible for initiating hereditary pancreatic cancer. The discovery highlights the value of personalized genome sequencing in identifying disease-causing mutations.
Researchers at UMMS discovered a new gene whose mutations cause familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder. The FUS/TLS gene mutation is estimated to account for 5 percent of inherited ALS cases and implicate defective pathways previously identified in other genetic forms of ALS.