Articles tagged with Genetic Disorders
Researchers have developed a simple blood test to diagnose Niemann-Pick type C disease, which can help patients begin treatment earlier. The test targets oxidized forms of cholesterol that are present in higher levels in NPC patients, distinguishing them from other conditions.
A study by Ashley Moffett's team found that specific interactions between maternal cells and fetal trophoblasts play a key role in determining successful pregnancy. The presence of certain maternal immune system genes provides protection against recurrent miscarriage, preeclampsia, and fetal growth restriction.
A study found that individuals with a specific gene variant respond differently to sleep deprivation, experiencing more fatigue and fragmented sleep. The findings have implications for understanding individual responses to sleep loss and may help inform strategies for mitigating its effects.
A disease mechanism linking hereditary amyotrophic lateral sclerosis (ALS) to the more common sporadic form has been discovered. The findings point to the P38 enzyme as a key factor in disrupting axonal transport, a disruption that results in loss of connectivity and symptoms of ALS long before the neurons actually die.
A study explores the experiences of parents whose children have undiagnosed learning disorders, developmental deficits, and congenital abnormalities. The researchers identify frustration as a common theme, adding complexity to the parenting journey. The findings highlight the need for support and understanding for these families.
Researchers have identified new mutations in the SPTLC2 gene that play a crucial role in Hereditary Sensory and Autonomous Neuropathy Type 1 (HSAN 1). These findings will lead to more accurate diagnoses, improved genetic counseling, and prenatal testing for affected couples.
Researchers from McGill University have discovered that mutations in the SCARF2 gene are responsible for Van Den Ende-Gupta syndrome, an extremely rare genetic disorder characterized by unique head and facial features. The study utilized a high-tech genome analyzing machine to quickly sequence coding portions of the human genome and id...
Researchers identified duplicated or missing DNA segments in children with ADHD, suggesting a neurodevelopmental disorder. The study also found overlap between ADHD and autism, suggesting a shared biological basis.
A University of Michigan-led team identified a gene responsible for a devastating inherited kidney disorder using a new, faster genetic analysis technique. The success offers hope that scientists can speed the search for genes responsible for many rare diseases and test drugs to treat them.
A Phase 1/2 study of LentiGlobin gene therapy has demonstrated positive results in a young adult with severe beta-thalassemia, achieving transfusion independence for over two years. The treatment also identified cells with the corrected beta-globin gene that overexpressed HMGA2.
Researchers have identified a new gene required for memory formation in Drosophila, which may have similar functions in humans. The discovery sheds light on neurological disorders such as Alzheimer's disease and could lead to new insights into cognitive enhancement.
Researchers have identified a gene likely responsible for Fuchs corneal dystrophy, an inheritable genetic disorder causing corneal transplant operations. The TCF4 gene variation significantly increases the risk of developing the disease.
Researchers used whole exome sequencing to discover a single gene at the root of several types of childhood brain disorders, including malformations of cortical development. The study found six unique mutations in the WDR62 gene among 30 families, highlighting its crucial role in human cortical brain development.
Researchers discover genetic alterations in the MLL2 gene that account for most cases of Kabuki syndrome, a rare disorder with multiple birth defects and mental retardation. The new DNA sequencing strategy quickly identifies the gene variants responsible for the condition.
Dr. Nadeau's research focuses on the impact of ancestral generations on an individual's health status, challenging traditional studies that rely solely on inherited genes and environmental exposures. The NIH Director's Pioneer Award supports his five-year investigation into transgenerational genetic effects.
Researchers discovered that mutations in the 'Fritz' gene can cause cell movement problems and cilia malfunctions, leading to conditions such as mental retardation, obesity, and blindness. The findings shed light on mechanisms regulating cellular machinery during embryonic development and its link to human disease.
Researchers used next generation sequencing to identify genetic mutations in a family with Perrault syndrome, a rare disorder associated with hearing loss and ovarian failure. The study found a common gene HSD17B4 linked to both Perrault syndrome and DBP deficiency, a severe congenital syndrome.
Dr. Qingxian Lu has received a $60,000 grant from the Research to Prevent Blindness organization to investigate the role of MerTK in retinitis pigmentosa, a group of genetic disorders causing night blindness and vision loss.
U-M researchers identified a DIAPH3 gene mutation that causes over-production of a diaphanous protein, leading to hearing loss. The discovery will aid in developing genetic tests for auditory neuropathy, a rare disorder previously difficult to diagnose.
A study published in the World Journal of Gastroenterology found that patients with the X+ allele of the APOB gene have a higher incidence of gallstone formation after radical gastrectomy. This is due to increased levels of TC and LDL, leading to bile cholesterol saturation and an increased risk of gallstones.
A systematic review by Cochrane Researchers concludes that alpha-1 antitrypsin replacement therapy has no clinically important effect on lung function, may cause modest harm, and is extremely expensive. The treatment should not be recommended due to the lack of evidence and potential adverse effects.
A new estimate suggests that Huntington's disease affects at least 12.4 per 100,000 people in England and Wales, likely an underestimate due to stigma and lack of genetic testing. The true prevalence may be higher, with implications for healthcare services and research into treatments.
Researchers at LA BioMed developed a novel approach to efficiently identify disease-relevant genes in human complex neurological disorders. This method was successfully applied to Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's Disease, revealing new insights into the disease and potential diagnostic tests.
The Human Heredity and Health in Africa project will utilize genetic, clinical, and epidemiologic screening tools to identify hereditary and non-hereditary components of risk. The effort aims to build research capacity on the continent and create strong collaborations between African researchers and those globally.
Children with special health care needs are at higher risk of developing oral disease. Poor diets, frequent use of sugary syrups, and inadequate oral hygiene can exacerbate the issue.
Researchers found rare variants in the SIAE gene that occur almost nine times more frequently in individuals with autoimmune disorders. These variants interfere with the enzyme's activity or secretion, potentially leading to an increased risk of conditions like rheumatoid arthritis and type 1 diabetes.
A nationwide study in Denmark suggests a genetic component to pyloric stenosis in infants, with a high concordance rate in monozygotic twins and significant familial aggregation among siblings. The study found an 87% heritability estimate, supporting the notion that inherited genes play a key role in the development of this condition.
A recent study from Tel Aviv University found a strong link between IVF treatments and mild to moderate cases of autism. The research suggests that IVF may be solving one problem by creating another. Dr. Ditza Zachor's ongoing research aims to separate out risk factors and investigate the rate of autism in IVF populations.
Researchers at the University of Leeds have found a protein, CLC-5, that plays a crucial role in treating Dent's disease, a rare genetic disorder causing kidney stones and failure. The study reveals that faulty CLC-5 delivery impairs endocytosis, leading to vitamin and hormone loss.
A study of 15,162 children born after assisted reproduction found a major congenital malformation rate of 4.24%, exceeding previous estimates. The majority of malformations were heart diseases and uro-genital system disorders, with a five times higher rate of angioma in girls.
A new gene has been discovered that explains variability in symptoms of Usher syndrome, a condition affecting hearing and vision. The discovery could lead to more precise genetic diagnosis and improved treatment options for patients.
A new study has identified multiple rare genes involved in regulating central nervous system processes, shedding light on the genetic causes of autism spectrum disorders. The research may lead to innovative treatments and a better understanding of the disorder.
Researchers at Mount Sinai School of Medicine have differentiated human stem cells into heart cells with cardiomyopathy. The study provides a foundation for developing drug therapies to stop or slow the disease.
A study published in World Journal of Gastroenterology found a significant link between gallstone formation after radical gastrectomy and the X+ allele of the APOB gene. Patients with this allele had higher levels of TC and LDL, leading to increased saturation of bile cholesterol and gallstone formation.
Researchers identified copy number variations in genes that affect brain signaling, increasing the risk of schizophrenia. The study found overlaps with genes involved in autism and attention-deficit hyperactivity disorder, suggesting common pathogenesis mechanisms.
Researchers identified a rare mutation in a gene required for histamine production, which could lead to the development of new treatments for tics and Tourette syndrome. The study found that increasing brain histamine reverses repetitive behaviors similar to human tics.
Researchers at Columbia University's Mailman School of Public Health found that traumatic experiences alter genes involved in stress response and immune system, leading to post-traumatic stress disorder (PTSD). The study identified six to seven times more unmethylated genes in individuals with PTSD, most related to the immune system.
A new study from Cedars-Sinai Heart Institute found that high doses of antioxidant nutritional supplements can induce stem cell genetic abnormalities, potentially leading to cancer. Researchers discovered this danger zone when seeking a way to multiply human cardiac stem cells.
A new study by Université de Montréal scientists finds that mutations in the SHANK3 gene are linked to schizophrenia, a chronic psychiatric disorder. The research also provides clues about the causes of this complex disorder, suggesting a molecular genetic link between schizophrenia and autism.
A new discovery reveals that drugs affecting DNA methylation could reverse autism's effects, improving diagnosis and treatment options. The study identified specific genes altered in autistic individuals with severe language deficits, paving the way for personalized therapies.
Dian Donnai, a leading expert on rare genetic diseases, has been awarded the March of Dimes/Colonel Harland Sanders Award for her pioneering work in defining and researching rare genetic conditions such as Williams syndrome. Her contributions have improved the lives of millions affected by these diseases.
Researchers have identified two genes, LRRN3 and LRRTM3, associated with autistic spectrum disorders (ASD), providing valuable insights into the genetic basis of the condition. Variations in these genes were found to be significantly associated with susceptibility to ASD.
Researchers at the University of Edinburgh identified three genes that contribute significantly to blood clotting speed in healthy individuals. These findings may help further understanding and treatment of conditions like deep vein thrombosis, heart attacks, and bleeding disorders.
Researchers found that mouse Bloom's syndrome protein is involved in proper homologous chromosome pairing and segregation during meiosis. The protein also plays a role in synapsis without affecting the entry into prophase I stage.
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.