Research on inherited diseases and their causes. Covers RNA therapies, hidden diabetes subtypes, pulmonary disease, and prenatal genetic testing.
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 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 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 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 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.