Articles tagged with Genetic Disorders
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Researchers discover that neurons directly contribute to Krabbe disease destruction through enzyme galactosylceramidase. This finding presents a new approach to developing therapies for the rare neurodegenerative disorder.
A new CRISPR strategy, employing natural DNA repair machinery, provides a foundation for novel gene therapy strategies to cure genetic diseases. The technique, known as homologous chromosome-templated repair, uses "nicks" of single DNA strands to correct genetic defects.
Researchers found that lamivudine improved cognition in a mouse model of Down syndrome, which could lead to new pharmacological treatments for cognitive impairment. The study highlights the potential of targeting retrotransposons, segments of DNA that contribute to neurodegenerative diseases.
A new genetic disease has been identified that causes abnormal brain development in children, resulting in severe learning difficulties. Researchers have discovered the underlying cause of the condition by analyzing changes in a protein coding gene called GRIA1, which helps move electrical signals around the brain.
A new analysis of ancient and contemporary genomes shows that more than half of historical groups experienced founder events, leading to reduced genetic diversity. This research has significant implications for scientists studying human genetic variation and the discovery of disease-causing mutations.
A team of researchers has developed an approach to minimize off-target mutations caused by the CRISPR-Cas9 gene-editing tool. The new method, dubbed spacer-nick, uses a modified pair of molecular scissors that make nicks on opposite strands of the DNA at two different points, reducing errors and increasing precision.
A team of researchers has identified a key player in the molecular pathogenesis of spinocerebellar ataxia type 17 (SCA17), a rare and devastating hereditary brain disease. The enzyme calpain is found to be overactive in cell and animal models of SCA17, leading to impaired protein function and accumulation of toxic protein fragments.
A collaborative team of scientists has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome. The study provides definitive diagnoses to 21 families worldwide, offering new insights into the disorder's symptoms and treatment options.
A study found that a methionine-deficient diet alters gene expression and DNA methylation in liver cells, increasing the risk of non-alcoholic fatty liver disease. A methionine-supplemented diet had the opposite effect, reducing the risk of liver damage.
A novel staging framework assesses Huntington's Disease progression and enables early-stage clinical trials of drugs. The HD-ISS groups patients by biological, clinical, and functional characteristics, allowing researchers to evaluate therapeutics in the earliest stages of disease.
Researchers used nanopore sequencing to detect specific genomic disorders in a fraction of the time it takes traditional testing. The study showed that diagnosis of larger chromosomal alterations could be made in one day, while smaller CNVs took two days.
A world-first study from the University of South Australia found a direct link between vitamin D deficiency and increased risk of dementia and stroke. The study analyzed data from 294,514 participants and found that up to 17% of dementia cases might have been avoided by boosting vitamin D levels.
Scientists have identified a new pathway for peroxisome division, independent of Mitochondrial Fission Factor (MFF). The study, led by Professor Michael Schrader, reveals that PEX11β and FIS1 cooperate to divide peroxisomes, restoring normal morphology. This discovery offers potential therapeutic options for diseases caused by defects ...
Researchers have created a new electrical test to screen hundreds of gene mutations, pinpointing harmful mutations that cause inherited heart disorders and sudden death. The breakthrough can identify genetic variants associated with neurological conditions, muscle and kidney diseases.
Researchers at the National Eye Institute have discovered a novel genetic eye disease, a type of macular dystrophy that affects central vision. The disease is linked to mutations in the TIMP3 gene, which regulates retinal blood flow and is secreted from the retinal pigment epithelium.
A Rutgers study analyzing brain stem cells of autism patients found irregularities in early brain development, supporting the concept that ASD arises from poor control of brain cell proliferation. The study discovered that some patients had NPCs producing too many brain cells while others had underproduced cells.
A new study found that patients with spinal muscular atrophy (SMA) who were identified through newborn screening had lower financial costs compared to those identified after symptoms arose. Early treatment also resulted in reduced costs, highlighting the importance of timely intervention.
Researchers have developed a gene therapy that appears to correct a rare creatine deficiency disorder by increasing creatine levels and reducing toxic guanidinoacetic acid. This could hold promise for treating the disorder, which commonly results in intellectual disabilities and seizures.
A new study reveals that combinations of multiple genetic factors determine the risk and severity of symptoms in Autism Spectrum Disorder. Researchers analyzed 37,375 individuals from 11,213 families to understand how rare mutations and common genetic variation contribute to ASD.
A recent genetic study found a link between height and lower risk of coronary heart disease, as well as higher risk for peripheral neuropathy and circulatory disorders. Being tall appears to protect against cardiovascular problems, but may increase the risk of non-cardiovascular conditions.
Researchers have identified the genetic causes of three mitochondrial diseases and proposed 20 additional possibilities for further investigation using a new approach. The study provides a platform to better understand how mitochondria's hundreds of proteins work together, which could lead to improved diagnoses and treatments.
Researchers developed a genetic test that diagnoses primary immunodeficiency disorders (PID), revealing inherited genetic defects in nearly half of patients. The test uses next-generation sequencing technology to identify specific gene variants associated with PID, enabling targeted treatment and earlier intervention for family members.
Researchers created a zebrafish model to study Bloom syndrome, uncovering similarities and species-specific novelties. The study found reduced fertility and shorter lifespan in mutant zebrafish, which are entirely male.
Inversions in the human genome are more common than previously believed, according to a recent study. The researchers found that these genetic variations can lead to genomic instability and an increased risk of certain diseases, including developmental delays and neuropsychiatric disorders.
Researchers at the University of Copenhagen have developed a new method to characterize chromosomes with unprecedented detail. This allows for the detection of hidden chromosome defects that can cause miscarriages.
The US Multisociety Task Force on Colorectal Cancer recommends genetic evaluation and personalized surveillance plans for patients with hamartomatous polyps. Genetic testing is critical in cancer prevention, allowing for tailored cancer surveillance to prevent progression and save lives.
Scientists have successfully developed a gene-editing platform called TALED that can perform A-to-G base conversion in mitochondria, the final missing piece of the puzzle in gene-editing technology. This breakthrough has significant implications for treating previously incurable genetic diseases caused by mutations in mitochondrial DNA.
A study published in Nature Communications found that BMP9 treatment restored capillary density and improved alveolarization in mice with ACDMPV. The treatment showed promise for improving care for BPD and CDH, two conditions that also affect lung development.
Researchers found plasma neurofilament light levels were elevated in all types of frontotemporal dementia, and in people who had mutations but hadn't shown symptoms yet. Higher levels of the protein were associated with greater disease severity and increased just before symptom onset.
A study by Osaka University researchers reveals patients waited years for diagnosis of rare diseases like hereditary angioedema. Long diagnostic delays can be fatal, and raising awareness is key to improving treatment.
Researchers developed mitapivat to target pyruvate kinase deficiency, a rare genetic condition leading to hemolytic anemia. The Phase 3 clinical trial showed significant improvements in hemoglobin levels and quality of life for patients with the disorder.
A new series of expert reviews explores less common causes of bone loss, including pregnancy-associated osteoporosis and anorexia nervosa-related osteoporosis. The reviews provide comprehensive information on these unusual conditions and their impact on bone health.
CHOP researchers have developed a targeted treatment that controls blood sugar in patients with hyperinsulinism, a genetic disease. The study found exendin-(9-39) reduces likelihood of fasting hypoglycemia by 76% and protein-induced hypoglycemia by 82%
Researchers used CRISPR gene editing to understand how deletions in one area of the genome affect nearby genes. They found that deleting a small region led to increased foetal globin expression and reduced adult globin levels, suggesting a key mechanism for asymptomatic patients with sickle cell disease.
Researchers found that mice with the Val89 gene variant exhibit attention deficit disorder-like problems, including diminished cognitive performance and increased vulnerability to distraction. The study provides direct evidence of the genetic variant's effects on acetylcholine availability and its resulting cognitive impacts.
Australian researchers have discovered a new neurodevelopmental disorder linked to the tumor suppressor gene FBXW7. The condition causes mild to severe developmental delay, intellectual disability, and other symptoms, with genetic variations in this gene found in 28 individuals from 32 families worldwide.
A study published in Ophthalmology identified the genetic spectrum behind foveal hypoplasia, a rare condition affecting vision development. The research combined data from over 900 cases across the globe and revealed relationships between genetic defects and the degree of arrested foveal development.
A recent study published in Molecular Therapy Nucleic Acids found that the molecule urocortin-2 may regulate recovery processes after a heart attack by modulating miR-29a. Treatment with urocortin-2 could favor patient recovery by regulating apoptosis and fibrosis.
The new guidelines recommend genetic testing for patients with inherited cardiac diseases and their relatives, particularly in conditions like long QT syndrome. Genetic counselling is also essential, as a diagnosis can have life-changing consequences, including impact on insurance and employment opportunities.
A genetic disease in children, CHARGE syndrome causes intellectual disability, attention deficit disorder, and autism. The INRS team is studying the gene's impact on brain development to identify potential treatments.
The T2T consortium's completed human genome has shown significant improvements in DNA sequencing accuracy, correcting tens of thousands of errors and revealing millions of genetic variations. This new reference genome can support the analysis of over 200 genes of medical relevance, potentially propelling research into genetic disorders.
A recent brain imaging study has found evidence of weakening connections between key brain areas in adolescents at high genetic risk of developing bipolar disorder. This study suggests that early intervention strategies may be effective in preventing the progression towards major changes in the brain.
A team of scientists discovered that a disrupted circadian clock gene may contribute to the development of autism spectrum disorder. The study found that deleting the Bmal1 gene in mice led to autistic-like behaviors and cerebellar dysfunction, which were alleviated by mTORC1 inhibition.
The IOF Skeletal Rare Diseases Academy has awarded grants to six young researchers for their outstanding work on rare skeletal disorders. The awards recognize the importance of advancing knowledge and diagnosis for these conditions.
The Texas Tech University Health Sciences Center has received a five-year, $1.87 million NIH grant to investigate the role of vitamin A depletion in Alzheimer's disease. The research aims to test the hypothesis that a lack of antioxidant all-trans retinoic acid (ATRA) promotes reactive oxygen species toxicity.
A recent study found that stimulating reactive astrocytes promotes the elimination of toxic protein aggregates in Huntington's disease. This cooperative mechanism between neurons and astrocytes holds promise for potential treatments.
A new study confirms that abnormalities in the GDF15 gene are involved in hyperemesis gravidarum, a condition causing severe nausea and vomiting during pregnancy. The discovery may lead to targeted treatments and improved care for women with HG.
Researchers at Clemson University have identified a genetic variation associated with congenital idiopathic megaesophagus (CIM) in German shepherd dogs, which is often fatal if left untreated. A genetic test using melanin-concentrating hormone receptor 2 and dog's sex can predict the risk of CIM with 75% accuracy.
Scientists developed a novel approach to securely share and analyze genomic data, enabling a more nuanced understanding of heritable diseases like cancer. This 'federated analysis' method allows researchers to analyze large amounts of genomic and clinical data without compromising patient privacy.
The March issues of American Psychiatric Association journals focus on the genomics of psychopathology, exploring its relationship with various mental illnesses. Research highlights unique genetic patterns among individuals who die by suicide using violent means.
Researchers identified a mechanism that helps explain how certain kinds of genetic disorders are transmitted from mother to child. The study showed that mutant mtDNA builds up in the final stages of egg formation and can impair mitochondrial function, leading to disease.
A world-first discovery has identified a genetic mutation responsible for a lymphatic disorder that may cause stillbirth or severe chronic disease in affected children. The mutation, MDFIC, controls the growth and development of lymphatic vessels in the fetus, leading to fluid accumulation in critical organs.
Researchers developed a new method for generating network layouts that allow for visualizing different information in two- and three-dimensional virtual space. This facilitates the exploration of complex protein interactions and provides more versatile, comprehensible representations of networks.
Researchers at UC Davis MIND Institute found a novel gene linked to autism spectrum disorder in newborns. The study analyzed DNA methylation signatures in the placenta, which reflected fetal brain development and early autism diagnosis.
Scientists found a protective gene that counters a deleterious mutation causing atrial septal defects, allowing some people with the mutation to thrive. The discovery provides valuable clinical information for families affected by congenital heart disease.
Researchers at Eötvös Loránd University have identified the molecular mechanism behind an important form of RNA modification, which can lead to genetic disorders. The discovery could pave the way for targeted RNA modifications and gene therapies.
Researchers at Fralin Biomedical Research Institute determine CASK gene disorder is caused by damage to neurons, not abnormal brain development. The finding has potential to inform treatment strategies for this rare genetic disease.
Researchers at Lancaster University have identified a genetic change that impacts insulin signaling and glucose metabolism in the brain, which may lead to effective drug treatments for autism. The study found that individuals with a specific DNA deletion are more likely to develop neurodevelopmental disorders, including autism.
Researchers developed an AI system called GestaltMatcher that uses facial characteristics to detect rare diseases with high accuracy. The system considers similarities between patients and can even suggest diagnoses for previously unknown diseases.
A new DNA benchmark, developed by NIST and collaborators, enables more accurate detection of genetic variants linked to diseases such as spinal muscular atrophy. The benchmark, based on HiFi sequencing technology, helps labs and clinics sequence genes with high accuracy, critical for disease diagnosis and treatment.