Articles tagged with Genetic Disorders
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A team of scientists has identified hundreds of new genomic loci associated with brain structure, shedding light on how the human brain is shaped. The study used genetically informed brain atlases to uncover the largest number of genetic variants linked to cortex size and thickness.
Biomedical engineers at Duke University have developed a gene therapy that helps heart muscle cells electrically activate in live mice. The approach features engineered bacterial genes that code for sodium ion channels, which could lead to therapies to treat electrical heart diseases and disorders.
Researchers have developed a method to assess drug potential for rare disorders by profiling FDA-approved drugs. The study identified NMD modulators that could potentially treat hundreds of disorders associated with nonsense-mediated RNA decay.
A University of Maryland School of Medicine study finds that a common ADHD medication, lisdexamfetamine, reduces symptoms of a rare genetic movement disorder in children, including collapsing episodes and improvements in speech and concentration. The treatment may also shed light on the mechanisms behind other neuromuscular diseases.
Gene-environment interactions play a crucial role in the development of autism symptoms, according to a new study by UNIGE researchers. By inhibiting Trpv4 and inducing massive inflammation, scientists observed neuronal hyperexcitability, which disrupted communication channels and led to social avoidance behaviors.
A cross-disciplinary team identified a previously unknown genetic cause of interstitial lung disease in a 2-year-old child, revealing a variant in the RAB5B gene that causes surfactant dysfunction. The discovery may lead to finding answers for other patients with similar conditions.
Researchers report successful treatment of two young infants with PROS using breast cancer drug alpelisib, inducing rapid and significant clinical improvement in symptoms. The treatment was well-tolerated and showed promising results, supporting the use of low-dose alpelisib in these patients.
A new test has been developed to screen for three rare genetic disorders - Prader Willi, Angelman, and Dup15q syndromes - in newborns. The test uses Methylation Specific-Quantitative Melt Analysis (MS-QMA) and showed high accuracy in distinguishing between those with the disorders and those without.
Researchers developed a non-muscle targeted gene therapy that enhances muscle fiber repair and improves muscle function in LGMD 2B patients. The treatment, administered via a single injection, reduces muscle degeneration and restores myofiber size and muscle strength.
A UMass Chan clinical trial demonstrates the safety and efficacy of an antisense oligonucleotide in suppressing mutant C9ORF72, a common cause of familial ALS. The treatment led to reduced levels of neurotoxins and stable or improved ALS functional scores.
Research by University of Texas Health Science Center at San Antonio scientists found that mice missing one copy of the Tbx1 gene exhibit slower cognitive processing. The gene's deletion led to diminished myelin insulation around nerves, impacting signal conduction between brain regions.
Scientists have discovered a brain protein, CNTNAP2, that quiets overactive brain cells and is at abnormally low levels in children with autism. The protein can be detected in cerebrospinal fluid, making it a potential biomarker for diagnosing autism and treating epilepsy.
The Nixon Visions Foundation has given a significant gift to support studies of the PRPH2 gene linked to macular dystrophy and boost stem cell research aimed at developing early diagnosis and a cure for this devastating genetic eye disease. Researchers hope to make a tremendous impact on people with this inherited eye disease.
Researchers are exploring how an engineered adeno-associated virus (AAV) can compensate for missing protein or swap out genetic mutations that cause vision problems. AAV has been found to be beneficial and is being used as a tool to deliver genes that work as they should.
A new consensus statement provides recommendations for the diagnosis, management, and care of individuals with achondroplasia across all life stages. The guidelines aim to improve clinical outcomes and quality of life for those affected by this genetic disorder.
Researchers from UNIGE found that a single missing genetic switch can lead to clubfoot and other malformations by disrupting cellular activation. The study highlights the crucial role of genetic switches in developmental disorders, suggesting that flaws in these mechanisms may be responsible for numerous malformations.
A study published in PNAS found that individuals with severe schizophrenia have a higher number of rare mutations than those with typical forms of the illness. This discovery could lead to more precise treatments for this chronic disease, which affects over 3 million Americans.
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.
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.
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 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 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 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.
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.
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.
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.
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.
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.
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.
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 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.
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 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.