Articles tagged with Genetic Disorders
Two independent microarray studies and a gene network analysis confirm that spontaneous genetic mutations underlie many autism cases. The research identifies an array of genetic variants linked to increased risk of developing an autism spectrum disorder.
Researchers found a 95% chance of an unaffected child when mutant mtDNA levels are below 18%, enabling PGD as a viable option. This discovery gives genetic counselling and the chance to have a healthy baby to women at risk, affecting 146,000 European families.
A UCLA study has identified a common molecular signature in autistic brains, shedding light on the disorder's origins. Researchers found consistent differences in gene expression patterns between autistic and healthy brains, particularly in the cerebral cortex.
A new gene-sequencing study identifies rare de novo mutations in four genes that likely play a causative role in autism. The study suggests that the 'multi-hit' theory of autism may be correct and provides evidence for exome-sequencing as an effective way to discover responsible genes.
Scientists at the University of Washington have identified 21 newly occurring genetic mutations in children with autism spectrum disorder, many of which altered proteins. The study suggests that these sporadic mutations could contribute substantially to the underlying mechanisms and severity of autism in approximately 20 percent of cases.
Scientists have discovered the CLN6 gene on chromosome 15 as the cause of inherited recessive Kufs type A disease. This breakthrough enables a rapid and simple blood test for diagnosis, screening in at-risk families, and genetic counseling.
Researchers at Columbia University Irving Medical Center have developed an innovative yeast-based screening method to identify a possible new treatment for the fatal childhood disease NP-C. The approach, known as 'exacerbate-reverse', has shown promising results in repairing genetic pathways that exacerbate lethality in yeast models.
Researchers identified mutations in genes associated with brain activity that frequently cause intellectual disability. These de novo mutations disrupt nerve cell communication, affecting at least two-thirds of cases. The study provides new insights into the genetic origins of intellectual disability and may lead to improved diagnostics.
An international team identified a genetic mutation responsible for a hereditary neurological disorder affecting members of a Palestinian family. The researchers used a combination of genome sequencing technology and disease-network analysis to pinpoint the causative mutation, which is found in approximately 1 in 200 Palestinians.
Researchers found that cave fish sleep significantly less than surface fish, with an average of 110-250 minutes per day. Genetic studies revealed a dominant gene responsible for reduced sleep in cave fish, which may be linked to human insomnia and other sleep disorders.
A study of twins found that genetic factors play a significant role in urinary incontinence, accounting for around 50% of the variation. Various forms of urinary incontinence, including stress and urge incontinence, have also been linked to genetic explanations.
Researchers found that four microRNAs (miR-22, miR-138-2, miR-148a, and miR-488) are associated with panic disorder, regulating genes related to anxiety pathways in the brain. The study suggests a coordinated involvement of multiple risk genes, implying the existence of molecular 'switches' that control gene function.
Prof. Chaim Cedar and Prof Aharon Razin were awarded the Canada Gairdner International Awards for their significant contributions to improving human life through genetic research. Their work deciphered the human genome project, revealing a new form of biological information through DNA methylation.
Researchers have developed mouse models of human MYH9 genetic disorders, which cause enlarged platelets and kidney disease. The models will aid in understanding the development of these diseases and identifying defects in the gene product.
A new study reveals a previously unrecognized susceptibility factor for bipolar disorder, with genetic variation in the neurocan (NCAN) gene associated with an increased risk. The findings suggest that NCAN variants may disturb neuronal processes in patients with bipolar disorder, leading to cognitive deficits.
A team of researchers from the University of Montreal has made a breakthrough in understanding the genetics of Meier-Gorlin Syndrome, a rare disorder characterized by short stature and abnormal development. The study identified three genes - ORC1L, ORC4L, and CDT1 - that play a critical role in DNA replication and cell growth.
Researchers at the University of Manchester have discovered a blood-clotting agent that can diagnose and monitor treatment for childhood genetic diseases. The biomarker, heparan cofactor II/thrombin (HCII/T) complex, accurately distinguishes between untreated patients with various MPS conditions.
A large-scale study found a significant genetic component in the development of symptomatic lumbar disc disease, with individuals with the condition more likely to have family members with disc disease. The study's findings support a genetic basis for the disease, although shared environmental risks cannot be ruled out.
Researchers at the National Institutes of Health's Undiagnosed Diseases Program have identified a novel disorder characterized by progressive and painful arterial calcification affecting the lower extremities. The condition, associated with mutations in the NT5E gene, has been observed in nine individuals from three unrelated families.
Researchers from the University of Leicester and international partners have identified potential new therapeutic targets for Huntington's disease using cutting-edge genetic techniques. The study found that flavonoids can prevent cell death in yeast, suggesting a possible new treatment approach.
A faulty MAP3K1 gene has been identified as a cause of disorders of sex development (DSD) in male embryos, leading to genital abnormalities and feminine appearance.
A study published in the American Journal of Human Genetics reveals a genetic alteration, MAP3K1, responsible for disorders of sex determination (DSD). The discovery provides insight into the cause of DSDs and contributes to better management, including the importance of removing gonads early to prevent cancer.
A new study by Iowa State University researchers demonstrates that replacing the enzyme for MPS I shortly after birth can prevent irreversible damage and clinical signs of brain, heart, and bone disease. The breakthrough opens the door to improved methods of enzyme delivery in human patients with similar genetic disorders.
Researchers found enzyme replacement therapy beginning at birth can eliminate almost all symptoms of mucopolysaccharidosis type I, a rare genetic disorder. Early treatment also showed significant improvements in brain pathology and reduced disease severity in animal models.
Researchers at Yale University used fMRI to identify three distinct 'neural signatures' in children with autism and their unaffected siblings. These patterns, including reduced activity in certain brain regions and enhanced compensatory activity, may help with earlier and more accurate diagnosis of autism spectrum disorder.
Researchers found that removing MECP2 from GABA-producing neurons reduces neurotransmitter production by 30%, reproducing Rett symptoms. The study suggests a possible pathway to understanding neuropsychiatric disorders and potential therapeutic intervention.
Scientists at the Wellcome Trust Centre for Human Genetics identified a genetic variant influencing left-right hand preference in individuals with dyslexia. The study found a strong link between PCSK6 gene variants and relative hand skill, suggesting a novel genetic basis for handedness.
A study analyzing genomic DNA from over 23,000 patients with ASD, developmental delay, or schizophrenia found a common deletion on chromosome 17 that increases the risk of developing either condition by at least 13.58 times.
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.
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 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.
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.