Articles tagged with Genetic Disorders
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Aarhus University researchers will study five specific mental disorders: schizophrenia, manic depression, depression, autism, and ADHD. They aim to identify biological disease mechanisms and provide the basis for better treatment and prevention.
A small study of 25 patients with hereditary hemorrhagic telangiectasia found improved cardiac output and reduced duration and number of episodes of nose bleeds after receiving bevacizumab. The treatment also significantly improved quality of life, with moderate toxicity observed.
A team of researchers from Mayo Clinic and the University of Tennessee Health Sciences Center identified the CIZ1 gene as the cause of adult-onset primary cervical dystonia. The discovery sheds light on a movement disorder that has long been difficult to explain, with symptoms including involuntary neck twisting and muscle pain.
Researchers identified a previously unknown mutation in a sodium channel protein as the likely cause of a rare and severe form of epilepsy. The discovery provides emotional relief to the patient's family, who had been searching for answers.
Researchers discovered a gene responsible for congenital mirror movements disease, which affects motor skills and hand movement coordination. The RAD51 gene is involved in the transmission of brain signals between the left and right sides of the body.
A study published in Autism found that 83% of children with autism spectrum disorder were below average in motor skills, while their siblings scored in the normal range. The researchers suggest that genes play a role in these impairments, potentially explaining the association between motor coordination and social responsiveness.
Researchers at USC have discovered an abnormal amount of Transforming Growth Factor Beta (TGF-β) outside cells, which may indicate Loeys-Dietz syndrome. This finding could enable rapid diagnosis and treatment of the life-threatening birth defect.
Researchers used whole-exome sequencing to diagnose a type of severe metabolic disease, identifying the genetic mutation responsible. The study showcases the potential for this technique to aid in diagnosing congenital disorders of glycosylation, offering new hope for families affected by these conditions.
A rare kidney disease study reveals how sodium and potassium levels are moderated in the body, shedding light on hypertension and familial high blood pressure disease. Researchers identified novel mutations linked to increased sodium activity and decreased potassium activity, providing a better understanding of this inherited condition.
A genetic mutation in the PLCG2 gene causes a rare immune disorder characterized by excessive and impaired immune function, leading to symptoms such as cold-induced hives, immune deficiency, and autoimmunity. The study identifies a unique genetic mechanism at the crux of allergy, immune defense, and self-tolerance.
A team of researchers has associated mutations in the reticulon 2 gene with hereditary spastic paraplegia type 12. They discovered that these mutations likely cause neurodegeneration by disrupting ER-shaping proteins, providing new insights into this complex disorder.
A team of researchers identified genetic mutations in OATP1B1 and OATP1B3 as the cause of Rotor syndrome, a rare genetic disorder characterized by jaundice. Complete deficiency of these proteins causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
Researchers identified genetic mutations in OATP1B1 and OATP1B3 proteins as the underlying cause of Rotor syndrome, a condition characterized by conjugated bilirubin buildup. Complete deficiency of these proteins can cause hypersensitivity to certain drugs and interrupt conjugated bilirubin reuptake into the liver.
Mayo Clinic researchers identified a gene responsible for hereditary diffuse leukoencephalopathy with spheroids (HDLS), a devastating brain disorder that leads to death between ages 40 and 60. The finding suggests HDLS may be more common than previously thought, allowing for genetic diagnosis without brain biopsy or autopsy.
Researchers may have unraveled the mystery of Elizabeth Barrett Browning's lifelong chronic illness, which shares symptoms with hypokalemic periodic paralysis. Her daughter's experience with the muscle disorder has provided a unique lens to view her letters and diary entries.
Treatment with Sirt1 overexpression may slow brain cell loss in Huntington's disease, a neurodegenerative disorder. Increased Sirt1 expression protected against neurodegeneration and huntingtin aggregation in mouse models.
A new study finds that nearly all individuals with paroxysmal kinesigenic dyskinesia (PKD) carry mutations in the PRRT2 gene, leading to abnormal neural communication and hyperexcitability. The condition can be well-controlled with existing drugs and often resolves with age.
Researchers have identified a critical genetic mutation in patients with myelodysplastic syndromes, which can progress to leukemia. The mutation is found in nearly 9% of patients, increasing the risk of developing acute leukemia by almost three times. The study raises hopes for improved diagnosis and treatment of this blood cancer.
Researchers at the Salk Institute have developed a new gene editing technique that uses patients' own cells to correct genetic mutations in the HBB gene, which causes sickle cell disease. The method repairs the beta-globin gene without introducing harmful genes into cells and appears to be more efficient than traditional techniques.
Scripps Research scientists have identified a key gene that plays a crucial role in maintaining metabolic balance. The study found that the melanocortin-3 receptor (MC3R) expressed outside the brain is equally important as its central nervous system counterpart.
Researchers found a link between genetic variants in cannabinoid receptor 1 (CNR1) and increased susceptibility to alcohol dependence. Specific CNR1 polymorphisms were more frequent in patients with alcohol dependence than those who abused alcohol.
A large-scale clinical study has provided insights into the causes of temporomandibular joint disorders, known as TMD, and identified demographic, biological, psychological, and genetic factors associated with chronic cases. The study's findings may lead to new methods of diagnosing facial pain conditions and predicting susceptibility.
Researchers at Penn's Perelman School of Medicine have made a breakthrough in treating the rare genetic disorder FOP, also known as fibrodysplasia ossificans progressiva. By using RNA interference to silence the damaged gene copy and leave the normal copy untouched, they restored cellular function caused by the FOP mutation.
Researchers discovered that brief periods of exercise in early life increased survival rates in mice with spinocerebellar ataxia 1 (SCA1), a devastating inherited disorder. Exercise reduced levels of capicua, a protein partner of ataxin1, which improved symptoms and extended lifespan.
A genome-wide association study has identified the TBL1X gene as a novel candidate gene for autism spectrum disorder (ASD) in males. The study found an association between variations in the TBL1X gene and an increased risk of ASD, with an estimated 15% increase in risk.
Researchers have discovered that a mutation in the CLN3 gene disrupts protein trafficking, leading to lysosome overflow and neuronal death in Batten disease. The findings may form the basis for a new therapy by targeting the kinase function of CLN3.
Researchers created databases showing how genes turn on and off in multiple brain regions through development, revealing a 'consistent molecular architecture' across individuals. Key findings include individual genetic variations linked to expression patterns, with most genes reversing their direction of expression after birth.
A new method has enabled the accurate sequencing and identification of genetic variants on the X chromosome, a hotspot for genes linked to autism and intellectual disability. The technology allows for fast and efficient analysis, potentially leading to easier clinical diagnosis and novel discoveries.
Researchers have discovered that normal Htt protein regulates the formation of cilia, which are longer and disorganized in patients with Huntington disease. This finding suggests that abnormal cilia may contribute to some symptoms of the disorder.
Researchers discovered that longer flanking repeat regions and timing of genetic recombination affect the risk of genomic disorders. Studies on Smith-Magenis syndrome and Potocki-Lupski syndrome found correlations between chromosome length and genetic material loss or duplication.
A multi-institutional project based at the University of Chicago aims to apply data mining methods to understand the genetic and environmental factors behind neuropsychiatric disorders. The Sylvio O. Conte Center will combine statistical power from pre-existing genetics, pharmacogenomics, text-mining, and clinical record databases.
A new inherited neurometabolic disorder has been discovered, caused by mutations in the ADK gene. The disease, adenosine kinase deficiency, disrupts the methionine cycle, leading to symptoms such as encephalopathy and abnormal liver function.
A new genetic mutation has been discovered in the C9ORF72 gene, responsible for over a third of familial ALS cases. The repeated DNA sequence causes toxic RNA buildup, leading to motor neuron demise and disease progression.
A large international study confirms that 11 genetic regions contribute to both schizophrenia and bipolar disorder, with many variations affecting both conditions. The research found strong associations between specific genes and the development of these severe brain disorders.
A team of researchers has found that common genetic variants contribute to the risk of schizophrenia and bipolar disorder, with many variations found in both diseases. The study identifies six new molecular evidence links with these diseases and suggests disruption of development processes as a factor in mental disorders.
Scientists discovered a previously unknown compensatory pathway that protects the brain and organs from genetic and environmental threats. The NMD pathway is vulnerable to insults, but human cells have evolved a way to overcome attacks by sending reinforcement molecules to compensate for losses.
A study found a link between a serotonin transporter gene variant and PTSD risk, suggesting the gene may predict symptom development after trauma. The researchers also discovered that this gene is associated with depression following life stress, highlighting its potential role in mental health.
Researchers identified new ADHD genes and showed a link between some of these genes and those found in autism spectrum disorder (ASD) and other neuropsychiatric conditions. The study found that people carrying the same CNVs can have different symptoms, highlighting the complexity of ADHD.
Geneticists at the University of Montreal have discovered a key gene involved in pain perception, which could lead to new pain relief drugs. The study identified a genetic mutation that causes hereditary sensory and autonomic neuropathy type II, a severe disorder characterized by degeneration of sensory neurons.
Researchers at Emory University School of Medicine identified a gene related to HPRT1 that explains why mice with the same mutation do not exhibit self-destructive behavior like humans. The PRTFDC1 gene may be a target for treating Lesch-Nyhan disease, a condition characterized by delayed development and neurological problems.
Researchers discover pregnancy hormone Prolactin activates copy gene SMN2, resulting in high production of SMN protein and extended lifespan in SMA mice. The treatment shows improved motor control, offering new hope for the deadly childhood disease.
Researchers found that genetic mutations cause rare human diseases by disrupting a protein called Tectonic1, which forms a crucial collar around the base of cilia. This discovery provides new targets for diagnostics and treatments.
A large twin study found that shared environment influences autism susceptibility more than previously thought, accounting for 55% of strict autism cases. Genetic heritability accounted for 37%, with moderate genetic and environmental contributions observed in spectrum disorders.
Researchers identify dozens of rare genetic variants in ion channel genes associated with epilepsy, as well as nearly identical variations in healthy individuals. The study suggests that a combination of altered channels can mask individual defects, leading to a complex interplay between gene variants and the development of epilepsy.
An international team of scientists found that mutations in the SCN9A gene cause nerve cells to become hyperactive, leading to degeneration of nerve fibers and severe pain in patients with peripheral neuropathy. The discovery could lead to specific therapies for victims of this debilitating disorder.
A genetic and biochemical test has been developed to diagnose Idiopathic Infantile Hypercalcemia (IIH), a rare inherited disease affecting 600 Canadians. The test detects the defect behind vitamin D breakdown, resulting in excess calcium in the blood and calcification of organs.
Researchers at Baylor College of Medicine use whole genome sequencing to identify the gene causing a rare genetic disorder, enabling fine-tuned treatment for the twins. The technique also improves diagnosis and care for patients with individualized therapies.
A study examined the reliability of DSM-IV diagnosis of alcohol dependence, finding that certain variables predict a reliable diagnosis. The heritability of LTH-AD was estimated to be 71 percent, confirming the importance of genetic influences.
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 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.
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.
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.