Articles tagged with Genetic Disorders
A NIH study has identified a molecular link between a gene mutation and late-onset retinal degeneration, a rare eye disease. The researchers found that the diabetes drug metformin and gene therapy may be effective treatments for the condition, which can cause abnormal blood vessel growth and deposits of apolipoprotein E.
Researchers have found consistent patterns in GABAergic neuron development between humans and mice, shedding light on the causes of neurodevelopmental disorders like autism and schizophrenia. The study uses single-cell RNA sequencing to create detailed maps of gene expression during human brain development.
A new study by researchers at Mount Sinai found that a specific gene, HHIP, helps regulate the development of the coronal suture, a fibrous joint that connects the front and middle bone plates. The study showed that embryos with a missing HHIP gene had misshapen skulls and fewer mesenchymal cells separating the bones.
Scientists have identified a mechanism contributing to the tissue phenotypes of PMM2-CDG, a congenital disorder of glycosylation. Using a zebrafish model, researchers found that defects in N-cadherin processing lead to craniofacial and motility abnormalities.
A special form of four-stranded DNA has been found to interact with the gene that causes Cockayne Syndrome when faulty. G-quadruplexes, which form knot-like structures in DNA, specifically bind to a protein called CSB, affecting its function and potentially leading to premature ageing.
Researchers at Johns Hopkins Medicine have discovered that manipulating certain nerve cells may trigger the formation of new heart muscle cells, restoring heart function after heart attacks. The study found that removing specific genes associated with circadian rhythms increased neonatal heart size and cardiomyocyte numbers by up to 10%.
Researchers genetically mapped the cell types of the mouse iris, revealing four new cell types and mapping genetic changes that occur when the iris dilates. This research may help connect genetic similarities between mice and humans, offering clues for developing new diagnostic tests and treatments for eye diseases.
Researchers at the University of Helsinki have developed a method to precisely and rapidly correct genetic alterations in cultured patient cells. The new technique combines two Nobel Prize-winning approaches to produce genetically corrected autologous pluripotent stem cells, paving the way for potential therapeutic applications.
Researchers identified two novel mutations in the LRP6 gene associated with a rare form of hand polydactyly and tooth agenesis. The study expands the genetic spectrum of LRP6-related disorders, enabling clinicians to differentiate diagnosis and facilitate genetic research.
A new study by USC researchers uses GANs to generate synthetic neurological data that can be fed into machine-learning algorithms to improve BCI usability. This approach improved BCI training speed by up to 20 times and enabled rapid adaptation to new subjects.
Experts debate whether newborn genome sequencing should be routine, with some arguing it can save lives and be cost-effective. A phased rollout is advocated, with genomic information disclosed sequentially at appropriate ages. The rollout requires data quality improvement and informed consent.
A novel gene therapy has shown sustained expression of clotting factor VIII, leading to a reduction or complete elimination of bleeding events in patients with hemophilia A. The trial demonstrated improved production of coagulation factor VIII over prolonged periods.
Researchers found that candesartan reduces accumulation of extracellular matrix proteins and normalizes blood flow in mice with hereditary cerebral small vessel disease. The study suggests a potential new treatment avenue for age-related cerebral arteriopathy.
Rice scientists developed a comprehensive approach to building better base editors, molecular machines that target and fix faulty DNA at single-base resolution. Their new strategy combines theory and experimentation to pinpoint binding energies and characterize deaminase interactions with ssDNA.
Researchers have created a mouse model of A-T, a disorder characterized by severe motor coordination loss and premature death, to test a promising new therapy. The study demonstrates that the therapy restores ATM production in tissues from A-T mutant mice.
A new study finds that genetic testing for cardiomyopathies and arrhythmias simultaneously can detect conditions more accurately than single-condition tests. This leads to better diagnosis and treatment options, such as targeted therapies and monitoring devices.
A world-first study published in the New England Journal of Medicine found that whole genome sequencing can uncover new diagnoses for people with rare diseases. The pilot study analyzed 4,660 individuals and found a new diagnosis for 25% of participants, including 14% not detectable by other conventional methods.
Researchers at McGill University developed a new technique to manipulate DNA methylation levels at specific genes using CRISPR/Cas9 technology. This approach enables targeted demethylation of genes associated with diseases, such as insulin gene dysregulation in diabetes.
A new multiplex network developed by Jörg Menche's research group maps all genes and their interactions, improving the identification of genetic defects and assessing their consequences. The network increases the probability of finding the crucial gene aberration threefold compared to separate networks.
Researchers from the University of Maryland School of Medicine and NIH found that retinoid therapy improved vision in mice with Usher syndrome, a rare genetic disorder. The study identified key functions of protocadherin-15, which helps recycle molecules essential for eye tissue.
A new study on Bardet-Biedl syndrome reveals that defective primary cilia can broadcast signals that worsen symptoms, including kidney problems and intellectual disabilities. Cilia play a crucial role in regulating intercellular communication, and their malfunctioning is responsible for various inherited disorders.
A new study found that whole genome sequencing increases the diagnosis of rare genetic disorders by 31%, shortening the diagnostic odyssey for affected families. This approach provides opportunities for future research and can identify non-mitochondrial disorders with specific treatments.
Researchers published safety and efficacy data for a novel nusinersen drug delivery method via subcutaneous intrathecal catheter system (SIC) for spinal muscular atrophy (SMA) patients. The study found improvements in arm and hand function, but no significant changes in motor scales or muscle force.
Researchers have discovered that red blood cells bind to cell-free DNA during sepsis and COVID-19, leading to their removal from circulation and triggering inflammation. This finding opens the door to new treatments for inflammatory diseases and acute anemia.
A genomic study revealed causative gene variants for inherited retinal dystrophies (IRDs) in diverse populations, with significant findings for Mexican, Pakistani, and European American participants. The study identified new gene variants and mutations contributing to IRDs, shedding light on disease variation and presentation.
Researchers found that Pseudomonas aeruginosa populations in CF patients' sinuses vary widely, with evolution following two stages: pathoadaptive community formation and fragmentation. This discovery may inform new therapeutic approaches by focusing on strongest evolutionary pressures.
A novel computational platform called scAAVengr uses single-cell RNA sequencing to quickly evaluate viral vectors for delivering gene therapies to the retina with maximum efficiency and precision. This approach saves time and resources by identifying suitable candidates that can deliver therapy to affected parts of the retina accurately.
A new study from the University of Pennsylvania School of Medicine found that the gene CDKL5 plays an essential role in the brain throughout life, even after childhood. Researchers discovered that reinstating CDKL5 activity in young adult mice with a genetic deficiency led to significant improvements in neurological problems.
A new AI-powered algorithm, GEM, has been developed to quickly identify genetic causes of serious disease in newborns. The technology leverages machine learning and natural language processing to analyze vast amounts of genomic data and clinical records, achieving an accuracy rate of 92% compared to existing tools.
Researchers at USask discovered excessive sodium absorption in small airways of CF patients, providing new insights into the disease. The study's findings have the potential to improve life for people with CF who cannot benefit from existing medications.
Researchers have created a human disease model of FCMD using stem cells from a patient, which successfully mimicked the disorder's brain defects. The study found that a small compound called Mannan-007 can restore αDG glycosylation and reduce FCMD-related defects.
Researchers at the University at Buffalo have developed a new treatment that pairs essential proteins with lysophosphatidylserine to build immune tolerance and prevent antibody development, potentially treating autoimmune disorders and allergies.
Scientists identified a rare genetic condition affecting prenatal development, leading to lifelong disabilities in children. They discovered a potential method to prevent the condition by administering a drug during pregnancy, which boosted Wnt signaling and restored normal growth in mouse embryos.
A study by University of Utah biologists discovered a mutation in the ROR2 gene is linked to short beak length in domestic pigeons. This mutation also underlies the human disorder Robinow syndrome, which shares striking facial features with the pigeon phenotype.
Researchers at RIKEN Cluster for Pioneering Research have found that Kleefstra syndrome, a genetic disorder leading to intellectual disability, can be reversed after birth. Postnatal treatment with artificially induced GLP production resulted in improved brain and behavioral symptoms.
The university will support research on normal and abnormal brain development, including rare diseases that cause intellectual disabilities. Researchers aim to improve care and treatment for children with IDDs.
Researchers developed an experimental device to improve blood sugar control in HI patients. The bihormonal bionic pancreas (BHBP) helps maintain stable glucose levels without human error in calculating doses.
Scientists have identified two new candidate genes, ULK4 and PTTG1, that positively influence the development of an embryo by restoring a strong Sonic Hedgehog signaling pathway. This finding provides new insights into the causes of holoprosencephaly, a congenital malformation affecting around one to four in every 1,000 unborns.
Researchers estimate that up to 1.7% of the Japanese population may have undiagnosed Gitelman syndrome, a salt-wasting tubulopathy that affects kidney function and electrolyte balance. The condition can lead to fatigue, muscle weakness, and arrhythmia, but is often misdiagnosed or overlooked due to its subtle symptoms.
Researchers developed a blood test to detect cancer early in people with NF1, a genetic disorder that affects 1 in 3,000 people worldwide. The test differentiates between benign and aggressive tumors with high accuracy and could help monitor treatment responses.
A study published by the European Society of Human Genetics found that genetic testing can identify the cause of childhood epilepsy in half of those studied, allowing for tailored treatments. This breakthrough discovery has the potential to improve treatment possibilities and avoid unnecessary procedures.
Belgian researchers have developed an all-in-one test to identify healthy embryos for transfer, reducing the risk of passing de novo genetic diseases. The test uses long read sequencing and can detect copy number variants and single nucleotide variants in a single workflow.
Scientists at Kyoto University developed a chemical compound that can tag and remove mutant DNA sequences from mitochondria, potentially treating mitochondrial diseases. The approach overcomes existing problems with genetic material injection and antioxidant drugs.
Researchers have created brain organoids from people with 16p11.2 genomic variations, which exhibit differences in brain size seen in individuals with autism spectrum disorder. The study revealed new information about molecular mechanisms that malfunction when this region is disrupted, providing opportunities for therapeutic intervention.
The Virtual NBSTRN Newborn Screening Summit brought together innovators to expand newborn screening research. The event showcased advancements in technology, advocacy, and clinical care for genetic disease detection, highlighting the importance of collaborations between researchers, healthcare professionals, families, and advocacy groups.
Researchers found a mutation in ELOVL4 enzyme impairs communication between neurons, leading to impaired motor control and coordination. The study provides new insights into the essential role of ELOVL4 in motor function and synaptic plasticity, suggesting potential therapeutic strategies for patients with spinocerebellar ataxia.
The Newborn Screening Translational Research Network (NBSTRN) has launched a new podcast called Newborn Screening SPOTlight, which shares stories of how newborn screening research saves lives every day. The podcast is co-hosted by Drs. Amy Brower and Kee Chan and features interviews with experts in the field.
Researchers identified a genetic mutation in nonhuman primates that closely resembles Pelizaeus-Merzbacher disease, a rare and progressive disorder affecting the central nervous system. The discovery was made possible by a massive genomic database built at OHSU's Oregon National Primate Research Center.
Researchers at the University of Oregon used CRISPR-Cas9 gene editing to target a specific mutation causing Fuchs' corneal dystrophy, preserving endothelial cell density and function. The study lays the groundwork for future research on using this technique to treat genetic disorders in post-mitotic cells.
Researchers at TMDU discovered a novel disorder resulting from a mutation in the AIOLOS protein, which causes immune deficiency and interferes with IKAROS protein function. The study found that the mutant protein forms a heterodimer with IKAROS, recruiting it to incorrect regions of the genome and leading to immunodeficiency.
A human variant of the SUV39H2 gene has been linked to autism spectrum disorders, causing cognitive inflexibility in mice and misregulated expression of genes related to brain development. The study suggests that histone methylation plays a crucial role in regulating gene expression, and its absence may lead to serious problems.
Researchers found that chlorpyrifos, a common pesticide, amplifies the effect of CHD8 gene mutations, leading to reduced protein levels in brain organoids. This study highlights the potential role of genetic and environmental interactions in autism spectrum disorder.
A novel gene therapy method has shown dramatic improvement in symptoms, motor function, and quality of life for children with AADC deficiency. The treatment involves introducing a benign virus programmed with specific DNA into precisely targeted areas of the brain.
Researchers at Mayo Clinic have discovered a single-gene cause of a neurodevelopmental disorder, identifying 28 unique variants in the SPTBN1 gene. The study provides hope for diagnosis and potential treatment for affected individuals.
Researchers found similar circuit malfunctions in the thalamus of mice with genes mutated for autism and schizophrenia. This discovery could lead to developing drugs targeting this circuit to treat people with different disorders.
Researchers have linked specific genes to obsessive-compulsive disorder (OCD) using genome-wide analysis, pointing toward novel avenues for treatment. The study identified a strong correlation between OCD and rare mutations in genes such as SLITRK5.
Researchers found 556 novel markers of colorectal tumors with microsatellite instability, which are differentially expressed genes. These markers were identified by incorporating cell composition into their regression model, indicating a potential role in disease prognosis.
A study by Nagoya University researchers reveals that cohesin's ring needs to open for certain processes, like DNA replication and chromosome segregation. This opening facilitates the progressive replication of the DNA double helix and allows DNA looping, crucial for regulating gene expression.
A team of researchers at the University of Maryland School of Medicine has identified a new gene, AP1G1, that is associated with neurodevelopmental disorders and intellectual disabilities. The gene plays a crucial role in transporting essential materials within brain cells, and its disruption can lead to significant developmental delays.
A new genetic cause, unrelated to OI, has been identified as causing infantile fractures in a child with EDS hypermobility type. The discovery may help prevent misdiagnosis of non-accidental trauma and improve treatment options for children with this condition.