Articles tagged with Genetic Disorders
Researchers identified a molecule produced by astrocytes that interferes with normal neuron development in Rett, fragile X and Down syndromes. Blocking this molecule reduces disease signs in mice brains, suggesting potential therapeutics to treat these disorders.
Researchers identified a group of Ashkenazi Jews who fell victim to antisemitic violence during the 12th century, shedding new light on Jewish medical history in Europe. The study suggests that a bottleneck event shaped the modern-day Ashkenazi Jewish population prior to the 12th century, earlier than previously believed.
A study found that genetic testing before pregnancy can detect the risk of severe developmental disorders in 44% of cases if parents are related. However, non-hereditary mutations play a larger role in children of non-consanguineous couples, and many genes remain undetected.
Young people with 22q11.2 Deletion Syndrome show distinct brain activity patterns during sleep, which may influence psychiatric symptoms. These differences are associated with altered connections within and between brain areas.
Children with Down syndrome have a unique preference for food textures, preferring crispy and oily foods over brittle or gooey ones. Researchers found that adding nutritional value to these preferred foods could help improve the children's eating habits and reduce choking incidents.
Researchers at CSU found that a gene called MSH1 helps keep plant mitochondrial genomes mutation-free, allowing for quick sorting of normal and diseased DNA. This process is more efficient in plants than in humans, where mutations are passed down through generations.
Researchers at NIH have developed a 3D structure of the twinkle protein, which helps identify mutations that cause mitochondrial diseases. The discovery could lead to targeted treatments for patients with conditions like progressive external ophthalmoplegia and Perrault syndrome.
Scientists at UC San Diego and Salk Institute discover link between mitochondrial function, inflammation, and DNMT3A and TET2 genes in atherosclerosis. Abnormal inflammatory signaling is triggered by low levels of these genes, leading to excessive plaque buildup.
PubCaseFinder, a clinical decision support system, has been updated to provide more precise phenotyping and automated differential diagnosis. The new version enables users to filter ranked lists using causative genes, modes of inheritance, and disease names, making it easier for medical professionals to diagnose rare and genetic diseases.
Researchers have identified a novel gene FIBCD1 as likely causative of rare neurodevelopmental disorders. The study found that FIBCD1 is a receptor for ECM 'sugar' components and linked to diseases such as autism, ADHD, schizophrenia, and Alzheimer's.
A new gene therapy approach using the neuroprotective protein SynCav1 has shown promising results in slowing down ALS disease progression and increasing life span in rodent models. The treatment preserved spinal cord motor neurons and extended longevity in mice, with similar effects observed in a rat model of ALS.
Researchers found substantial iron deposits in motor circuits of the brain in individuals with high genetic risk for hereditary hemochromatosis, increasing risk for Parkinson's disease and other movement disorders. Males were more affected than females due to natural processes.
Researchers used multimodal adaptive optics imaging to study photoreceptor and retinal pigment epithelium relationships in eyes with vitelliform macular dystrophy. The study provides valuable insights for developing new therapies to treat this rare eye disorder.
A team of researchers from UMass Amherst and UMass Chan Medical School has developed a technique to increase the secretion of alpha-1 antitrypsin (AAT) in muscle cells by about 50 percent. This breakthrough will help improve gene therapies for diseases caused by dysfunctional protein production.
A genetic defect in flies leads to motor disorders, similar to those found in humans with Parkinson's disease. The study suggests that Creld, a protein involved in energy production, may play an important role in the development of Parkinson's.
A set of genes promoting sweet taste sensation also regulate protein management in flies, according to a new study. The finding suggests a connection between taste-related genes and disorders of protein aggregation.
A new study may help develop therapies to slow vision loss in pigmentary retinopathy by understanding how the visual system adapts to photoreceptor death. The research found that the visual pathway becomes hyperactive during early RP, which could lead to therapeutic protection and restoration of vision.
A new type of adeno-associated virus (AAV) gene therapy candidate, FLT180a, has been shown to reduce bleeding risk in patients with haemophilia B. The treatment led to sustained production of FIX protein from the liver in nine out of ten patients, eliminating the need for regular replacement therapy.
A world-first study has confirmed the link between Alzheimer's Disease and multiple gut disorders, revealing shared genetic architecture. The study suggests that abnormal cholesterol levels play a key role in both conditions, and may lead to new potential treatments for Alzheimer's and gut disorders.
Lumasiran, an RNA interference therapeutic, has been shown to reduce oxalate levels in patients with primary hyperoxaluria type 1 (PH1) who have relatively preserved kidney function. In the ILLUMINATE-C study, lumasiran resulted in substantial reductions in plasma oxalate with acceptable safety in patients on hemodialysis.
A study by Norwegian University of Science and Technology found that parasites infesting farmed salmon have a distinct microbiome that interacts with the fish's microbiome. This interaction can impact the host's health, highlighting the importance of understanding the complex relationships between parasites and their hosts.
A study found that individuals with a rare genetic variant common in people of East Asian descent are at higher risk of vessel reclog during or shortly after endovascular therapy for ischemic stroke. The researchers analyzed data from 277 East Asian adults who received the treatment between 2011 and 2021.
A systematic review of US-based studies on Hereditary Hemorrhagic Telangiectasia (HHT) reveals a lack of racial and ethnic data, potentially impacting treatment and diagnosis. The study highlights the need for inclusive research designs to address growing concerns about racial disparities in HHT care.
Researchers generated simple kidney-like structures called organoids and used them to identify potential drugs for adult-onset polycystic kidney disease. They found nine compounds that inhibited cyst growth without stunting overall growth.
Researchers investigate regulatory frameworks governing preimplantation genetic testing in Japan, the UK, and Western Australia. The study highlights the need for a multidisciplinary approach to evaluate disease severity and make informed decisions about treatment.
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 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 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 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.
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.
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.
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.
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.
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 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.
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.
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.
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%
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.
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.
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.