Articles tagged with Genetic Disorders
Researchers discovered that zinc can restore the functioning of proteins affected by mutations in the GNAO1 gene, leading to severe mental and motor disabilities. By reactivating hydrolysis, zinc enables neurons to communicate correctly with their environment.
Researchers investigate how motor proteins transport vital proteins and RNAs to the right location within cells, where they can cause or prevent genetic neurological diseases. By understanding these highly regulated transport systems, scientists hope to develop new treatments for conditions like spinal muscular atrophy and Charcot-Mari...
A University at Buffalo-led study suggests the huntingtin protein is involved in neuronal injury and regeneration. The research found that HTT moves from the injury site to the cell body, carrying components necessary for survival.
Researchers at UCI have made significant progress in precision genome editing for treating inherited retinal diseases, enabling precise gene correction and disease rescue. The study highlights the potential of this technology to revolutionize treatment of genetic disorders of vision, with over 270 causative genes identified.
Researchers found a specific CAPRIN1 gene mutation linked to impaired protein production, leading to autism spectrum disorders, ADHD, language impairments, and muscle weakness. The study also identified similar symptoms in patients with early-onset ataxia and myasthenia.
A new computer program, ExtRaINSIGHT, has been developed to track harmful mutations in the human genome throughout evolution. The study found three regions of the genome that are extremely sensitive to mutations, including splice sites, miRNA molecules, and central nervous system genes.
A phase 3 clinical trial showed tofersen reduces SOD1 and neurofilament light protein levels, slowing down disease progression. Longer-term use may help stabilize muscle strength and control in people with genetic ALS.
A study by Karolinska Institutet found that children with primary immunodeficiency diseases have a higher mortality rate due to COVID-19. Genetic analysis revealed mutations in genes important for immune defense, and some children lacked antibodies to the coronavirus.
A team of scientists has solved the structure of cystinosin and determined how mutations interfere with its normal function. This provides insights into the underlying mechanisms and suggests a way to develop new treatments for the devastating genetic disease.
A mutation in the TMEM163 zinc transporter gene has been definitively linked to hypomyelinating leukodystrophy, a rare and often fatal neurological disorder. The study's findings provide new insights into the role of zinc in normal brain development, injury, and disease.
A new study from Harvard University identifies the genes and genetic sequences that orchestrate the formation of the human pelvis during pregnancy. The research shows that key pelvic features form around 6- to 8-week mark, including a curved and basin-like shape.
A new study published in Cell Reports has identified the molecular pathways responsible for reduced seizures during fasting. The researchers found that amino acid sensing plays a critical role in the beneficial effects of fasting on seizures, suggesting targeted dietary strategies may be effective for patients without DEPDC5 mutations.
Researchers discovered a gene called nervy that helps fruit flies respond to socio-environmental signals to stop fighting. The study's findings have implications for understanding aggression in humans and potentially treating psychiatric disorders like Parkinson's disease.
Researchers used data from over 400,000 individuals to model genetic and environmental factors influencing common neuropsychiatric disorders. Gene-environment interactions accounted for a significant proportion of variability in some disorders, while others showed more substantial contributions.
A new study suggests that low-dose ketamine is generally safe and effective in treating clinical symptoms of children diagnosed with ADNP syndrome, a rare neurodevelopmental disorder. The treatment resulted in improvements in social behavior, attention deficit, and hyperactivity, as well as reduced aggression.
Researchers have developed a novel DNA-based method to identify people at greater genetic risk of developing Alzheimer's disease before symptoms appear. The method uses data on common DNA variants from over 7.1 million individuals and predicts a person's risk of Alzheimer's, depending on which DNA variants they have.
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.
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 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.
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 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 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 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.
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.
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.