Articles tagged with Developmental Disorders
Researchers at Baylor College of Medicine have identified a rare genetic diagnosis in a child with Lennox-Gastaut syndrome, a severe form of epilepsy and developmental delay. The study reports a highly complex rearrangement of chromosomes 3 and 5, leading to a rare condition known as 5q14.3 microdeletion syndrome.
A Dartmouth-led study reveals that cystic fibrosis disrupts the maturation of the gut microbiome in infants, leading to a depletion of health-associated bacteria and potentially poor health outcomes. The study found that the microbiomes of infants with CF remained stunted or delayed in their development compared to healthy infants.
The Syngap Research Fund's 2024 Impact Report showcases the organization's progress in accelerating SYNGAP1 research, collaborating with academia and industry, and advocating for patients' rights. The report highlights seven core scientific programs and over $6M in funding for SYNGAP1-related disorders science.
Two comprehensive datasets from the Gabriella Miller Kids First Pediatric Research Program explore childhood cancers and congenital disorders. The new datasets aim to identify genetic causes and links between these diseases in children, ultimately supporting the development of improved treatments.
A new drug developed by the Centre for Addiction and Mental Health (CAMH) has shown significant promise in reversing memory loss in a mouse model of Alzheimer's disease. The drug, GL-II-73, selectively targets GABA receptors to restore brain function and repair damaged neural connections.
Dental implant surgeries require optimal mechanical stress levels for successful bone healing and long-term implant success. Researchers are developing a hybrid biomechanical model using machine learning to provide precise, patient-specific predictions of mechanical stress.
A study found that people with delayed REM sleep have higher levels of toxic proteins amyloid and tau, and lower levels of healthy protein BDNF, which can increase the risk of developing Alzheimer's. Practicing healthy sleep habits may help mitigate this risk.
A West Virginia University legal scholar argues that current laws favor biologic drugs with longer exclusivity periods, affecting their pricing. The scholar suggests reducing exclusivity for biologics to bring them in line with small-molecule drugs, which could lower drug costs.
The study found that Jinfeng pill treatment improved ovarian size, follicle development, and hormone levels in POR rat model. The combination therapy produced the most significant improvements, including increased VEGF expression and balanced hormones.
Research by Stephen Shea and Alexandra Nowlan reveals that smell and hearing signals merge in the brain's auditory cortex during pup retrieval, a crucial maternal behavior. This study may provide insights into how autism affects social cue interpretation and offer new avenues for understanding human connection.
Researchers at U of T have created SIMPL2, a platform that simplifies detection and improves accuracy of protein-protein interactions. The tool enables the rapid identification of protein interactions, including weak ones, for targeted drug therapies.
Researchers have identified molecular changes that occur long before symptoms appear, shedding light on the development of Rett syndrome. These findings hold promise for developing safe gene therapies and monitoring biomarkers to track MECP2 gene function.
The 2025 Gottfried Wilhelm Leibniz Prizes were awarded to four female and six male researchers, with two working in the humanities and social sciences, four in life sciences, three in natural sciences, and one in engineering sciences. The winners received €2.5 million each to fund their research for up to seven years.
Researchers identified the critical role of TIMM50 protein in mitochondrial energy production and its link to a severe and rare neurological disease. The study's findings suggest potential targets for future drug treatments and advance research on protein import into mitochondria in brain cells.
Researchers developed an interactive screening model called RITA-T, which improved early identification of high-risk toddlers from underserved areas. The study found that toddlers screened via RITA-T had shorter wait times and more accessible diagnostic services compared to those not using the model.
A UT Health San Antonio study found that brain volume changes correlate with social behavior differences in psychiatric conditions such as autism spectrum disorder and schizophrenia. Tbx1 deficiency was associated with decreased brain volume in the amygdala and surrounding cortical regions, affecting desire for social interaction.
The Jackson Laboratory (JAX) has been awarded a $230,000 grant from the SynGAP Research Fund to characterize a mouse model for SYNGAP1-Related Disorders. This work aims to test innovative tRNA suppressor therapies and generate patient-derived research models.
The American Heart Association has launched a new three-year initiative to standardize HCM systems of care and support better management of the disease. The initiative aims to overcome gaps in care for hypertrophic cardiomyopathy, leading to delayed treatment, increased risk of complications, and preventable death.
SynGAP Research Fund appoints Virginie McNamar as President and COO, bringing extensive Rare Disease advocacy experience. The organization aims to accelerate progress with robust organizational structure and strategic focus.
A UC Riverside study found that probiotic supplementation can reduce the negative impacts of PBDEs on neurodevelopment, behavior, and metabolism in mouse offspring. The researchers discovered that LR treatment helped normalize body weight gain and tooth eruption timing, as well as improved glucose metabolism and insulin levels.
Researchers propose a new working definition for CVI, a leading cause of blindness and visual impairment in children. The definition is based on five key elements and includes early detection, neuroplasticity, and functional deficits.
Researchers developed a new photoacoustic imaging technique that addresses skin tone bias in breast cancer detection. The technique, combined with specific wavelengths and beamforming methods, enhances target visibility across all skin tones, providing clearer images with improved signal-to-noise ratios.
Scientists use machine learning-based classifiers to differentiate lung cancer and noncancer based on urinary miRNA ensembles. The study reveals high specificity and sensitivity in detecting early-stage lung cancer, offering new hope for improved patient outcomes.
Dr. Natalia Acosta-Baena has identified a novel genetic syndrome that reshapes our understanding of brain disorders and challenges traditional views on neurodevelopmental disorders and neurodegeneration. Her research reveals how a single gene involved in neuronal transport can influence both brain development and degeneration.
Acute interstitial nephritis (AIN) is a common cause of acute kidney injury, often linked to medication use. Johns Hopkins researchers developed an electronic diagnostic model using machine learning to predict AIN in patients, showing improved accuracy in diagnosis and potential benefits for treatment decisions.
Researchers at WVU are developing a hybrid of silver and carbon nanotubes to reduce antibiotic-resistant infections in open bone fractures. The study aims to create a safe and effective antimicrobial material that can be used on various medical products.
A new study provides deeper understanding of Myotonic Dystrophy Type 1 (DM1) by revealing an unexpected link between the cardiac condition and SCN5A protein. The research found that reducing fetal SCN5A expression did not correct heart defects, suggesting alternative approaches may be needed to address the condition.
A new remote tool has been developed to detect autism and developmental delay in children. The Kids’ Development Diagnosis methodology was adapted into a mobile app, allowing for swift and efficient diagnosis. This digital tool can help prevent lifelong impacts of early intervention.
A new study from the A.J. Drexel Autism Institute has released findings that underscore critical challenges and opportunities in transitioning autistic youth into adulthood. The research emphasizes the need for improved services and supports, as well as the importance of prioritizing autistic perspectives and cultural considerations.
Researchers found that female mouse models of Rett syndrome have a mosaic-like distribution of cells expressing wild-type and mutant MeCP2 protein, leading to dysregulated genes. The study also discovered an unusual disease progression, with females having more dysregulated genes at the pre-symptomatic stage than later on.
A new study reveals that mild and asymptomatic SARS-CoV-2 infections can trigger immune responses in pregnant individuals, causing serious inflammatory responses in the developing fetus. The study also found that even without full infection, a pregnant individual's immunological response to infection may impact the fetus.
A large-scale study of children with genetic disorders found that thousands benefited from targeted treatments and support after receiving a genetic diagnosis, with over 20% able to start or adjust therapies. Researchers expect this number to grow as new genetic therapies develop.
Researchers at Tokyo Institute of Technology developed a method to precisely control the timing of DNA droplet division, mimicking biological Liquid-Liquid Phase Separation (LLPS) droplets. This breakthrough enables precise control over synthetic droplet dynamics, key to developing bio-inspired systems.
A recent study found that pregnant women who get less than 7 hours of sleep per night are at higher risk of having children with neurodevelopmental delays. This can affect social, emotional, behavioral, motor, cognitive, or speech skills in the child.
Industrial fishing practices in tropical and subtropical waters release high levels of methylmercury into the ocean. The majority of this mercury is found in large pelagic fish like tuna, which are then consumed by humans. This can lead to developmental delays in children and impaired cardiovascular health in adults.
The 2024 guideline provides comprehensive recommendations for assessing cardiovascular disease risk and managing patients taking SGLT2-inhibitors. It also highlights the importance of judicious screening and evidence-based management of cardiovascular conditions before, during, and after noncardiac surgery.
A recent study by the Wellcome Sanger Institute and GeneDx analyzed nearly 30,000 families with developmental disorders, revealing that known genes explain over 80% of cases caused by recessive genetic variants. The team identified several new genes associated with these conditions, providing answers for previously undiagnosed families...
Researchers at RIKEN Center for Biosystems Dynamics found multiple specialized types of DNA replication in early-stage embryos, including a period of instability prone to chromosomal copying errors. This discovery could lead to improved methods of in vitro fertilization (IVF) and better strategies for minimizing chromosomal abnormalities.
A uterus transplant was successfully performed on women with absolute uterine-factor infertility, resulting in a high live birth rate. However, the procedure was also associated with significant medical and surgical risks for both recipients and donors.
A study published in Neuron reveals that neurons are wired to connect seemingly unrelated concepts, enhancing the brain's ability to predict what we see based on past experiences. Visual experience influences the organisation of feedback projections, which store information about the world.
Parents who struggle with alcohol use disorders can pass along symptoms of early aging to their children, affecting them well into adulthood. These accelerated aging effects include high cholesterol, heart problems, arthritis, and early onset dementia.
A new $3.5 million NIH grant will investigate the complex interplay between traumatic brain injury and genetic risk factors in the development of Alzheimer's disease. The three-year study will use rodents to assess disease progression across different age periods, providing insights into potential early intervention strategies.
A new study found that autistic youth born in underserved neighborhoods are more likely to have greater ADHD symptoms. The Child Opportunity Index, which tracks neighborhood traits, was used to assess the relationship between environment and ADHD symptoms.
A Stanford Medicine study found that premature babies who received more skin-to-skin care had stronger neurodevelopmental performance at 1 year. The intervention was simple: a parent holding the baby on their chest with only a diaper on.
Researchers at Lawson Health Research Institute have made a world-first discovery using advanced technology and artificial intelligence (AI) to accurately diagnose rare diseases and prenatal exposure-related birth abnormalities. They used EpiSign technology, which measures a patient's epigenome, to identify patients affected by recurre...
Researchers at UCLA have developed a wavelength-multiplexed diffractive optical processor that enables all-optical multiplane quantitative phase imaging. This approach allows for rapid and efficient imaging of specimens across multiple axial planes without the need for digital phase recovery algorithms.
A recent study has identified a blood protein called fibrin as the root cause of developmental delays and brain damage in preterm infants. The researchers found that fibrin interferes with a cell-signaling pathway essential for neuron creation, particularly in the cerebellum.
Researchers found that a tiny deletion in the titin protein causes developmental defects in embryonic ventricles, leading to increased potassium ion current and abnormal ANP expression. This remodeling leads to impaired atrial contractility and an increased risk of adult atrial fibrillation.
Researchers at KAUST have developed NanoRanger, an accurate and rapid method for genetically diagnosing Mendelian genetic disorders. This breakthrough enables diagnosis in just 12 minutes, providing a detailed picture of the genomic disorder.
Researchers developed a new NIPT-based method that reveals 33 pathogenic copy number variations (CNVs) in the Duchenne muscular dystrophy (DMD) gene. This study provides valuable insights into the frequency and spectrum of maternal CNV carriers in the Chinese population.
A large study confirms that siblings of autistic children have a 20% chance of autism, with factors such as sex and number of autistic siblings influencing likelihood. The study also found racial and maternal education level differences in recurrence rates.
A new study found that delaying diabetes diagnosis for at least four years through diet and exercise significantly lowers the risk of dying and experiencing cardiovascular events. Individuals who maintained prediabetic status for longer periods had better long-term health outcomes, with a reduced risk of death and complications.
The WVU researchers developed a non-invasive, at-home sleep apnea detection device that uses artificial intelligence technology to measure oxygen levels in the blood. Early detection can help prevent worsening of underlying comorbid conditions and reduce healthcare costs, according to Dr. Sunil Sharma.
Researchers at PNRI reveal how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. These complex rearrangements are caused by segments of DNA switching templates during the repair process, leading to disruptions in normal gene function and contributing to genetic disorders.
Researchers found that siblings of children with autism who had relatives with schizophrenia or anxiety experienced increased social and communication difficulties. Family history of anxiety and intellectual disability was associated with lower verbal and nonverbal skills in these siblings.
A new study highlights the importance of providing developmental supports to young victims of serious child abuse before they start school. Researchers found that children who were removed from their homes and entered out-of-home care were more likely to be developmentally delayed in some areas, but also vulnerable in other areas. The ...
Researchers found a significant association between carpal tunnel syndrome and the risk of developing heart failure and amyloidosis. Individuals with carpal tunnel syndrome were at a 13% higher risk of heart failure and a threefold higher risk of amyloidosis compared to those without the condition.
A new study from the University of Lausanne reveals that both high and low levels of the AFF3 protein can lead to severe intellectual deficits and developmental disorders. The research, led by Alexandre Reymond, identifies a critical role for the gene in development and highlights the importance of precise dosage.
A team of POSTECH and ImmunoBiome has discovered a dietary-derived bacterial strain, IMB001, that induces nutritional immunity and boosts anti-tumor responses. The strain works by skewing tumor-infiltrating macrophages toward an inflammatory phenotype, leading to increased cell death of rapidly multiplying tumor cells.
A recent study reveals that a cellular process called transfer Ribonucleic acid (tRNA) modification influences the malaria parasite’s ability to develop resistance. This breakthrough discovery could help researchers develop new drugs to combat resistance and better tools for studying RNA modifications.