Articles tagged with Down Syndrome
The JTMF Foundation has expanded its footprint with a $3.3 million gift to fund three main initiatives: identifying early signs of Alzheimer's in adults with Down syndrome, expanding access to cutting-edge clinical research, and developing best-practice guidelines.
Researchers at UCLA mapped how Down syndrome disrupts prenatal neuron development, leading to cognitive and sensory processing differences. The study found altered developmental sequences and cell populations that may contribute to the condition's effects.
Researchers have identified a single genetic change that drives the development of myeloid leukaemia in children with Down Syndrome. The study reveals a common vulnerability and treatment target, suggesting potential repurposed treatments. The genetic change, related to the GATA1 gene, is present at all stages of the disease.
Researchers from the Salk Institute found that astrocytes play a crucial role in fragile X syndrome symptoms. Correcting dysregulations in star-shaped brain cells improved some symptoms, including reduced seizures and restored molecular balances in a mouse model of FXS. The study validates the importance of studying astrocytes in FXS r...
Researchers used base editing to correct the SCN8A gene mutation responsible for severe inherited epilepsy. The approach successfully eliminated or reduced seizures and improved brain function in lab mice, offering new hope for treating genetic epilepsies.
Researchers found that an extra copy of chromosome 21 leads to increased levels of the ADARB1 enzyme, causing premature and excessive RNA editing in developing brain cells. This dysregulation affects how brain cells communicate and form circuits, potentially influencing neurological and behavioral outcomes in Down syndrome.
The Linda and Mike Mussallem Foundation has donated to USC's Keck School of Medicine to enhance clinical trials for individuals with Down syndrome at risk for Alzheimer's. This will increase domestic and international sites, accelerating the development of treatments specifically for this population.
A longitudinal study on individuals with Down syndrome reveals that cerebrovascular lesions do not follow a linear course, fluctuating and even decreasing over time. The analysis shows significant variability in the evolution of these lesions, particularly in regions already affected by Alzheimer's disease.
Researchers identified three master regulator genes on chromosome 21 that disrupt normal brain activity in individuals with Down syndrome. Overactivating these genes was linked to disruptions in hundreds of other genes involved in learning and memory, providing new insights into the condition.
A study analyzing data from 44,000 adults found that those with intellectual and developmental disabilities experience substantially higher rates of anxiety and depression. The study also highlights significant healthcare treatment and access barriers facing this population.
Research at the University of Colorado Anschutz Linda Crnic Institute found significant alterations in liver metabolism among individuals with Down syndrome, including elevated bile acids and biomarkers of liver dysfunction. The study suggests that dietary interventions may help improve health outcomes.
Researchers are conducting a 5-year study to understand how children with Down syndrome develop expressive communication skills, including gestures, sounds, and spoken words. The team aims to create a personalized guide for families and professionals to provide tailored support.
A study published in Alzheimer's & Dementia found that long-term pharmacological treatment improves memory alterations and inflammation in mice models for Down syndrome. The treatment targets the CB1 receptor, which is involved in neuronal connections and memory, and shows positive results even when age-related neurodegeneration is added.
Researchers at Gladstone Institutes discover a gene called HMGN1 that disrupts DNA packaging and regulation, leading to heart malformations in people with Down syndrome. Removing the extra copy of HMGN1 from mice with Down syndrome prevents heart defects, paving the way for potential treatments.
Researchers used CRISPR technology to identify HMGN1, a nuclear binding protein that contributes to trisomy 21-related CHDs. The study found that an overabundance of HMGN1 leads to abnormal heart development and gene expression.
Scientists found a promising candidate, pleiotrophin, which is essential for brain development and function; restoring it may improve brain circuits in individuals with Down syndrome and other neurological diseases. The study's findings suggest using modified viruses to deliver the protein directly into cells could lead to new treatments.
A study by researchers at the University of São Paulo identified high levels of neuroinflammation in young individuals with Down syndrome, contributing to the high prevalence of Alzheimer's disease. The discovery paves the way for disease prevention strategies and personalized treatments.
Researchers mapped physiological differences in individuals with Down syndrome across the lifespan, identifying unique effects of trisomy 21 on childhood, adolescence, and adulthood. The study highlights the need for personalized medicine tailored to different life stages.
Researchers at Stowers Institute for Medical Research have identified the precise location where human chromosomes break and recombine to form Robertsonian chromosomes. The study reveals that repetitive DNA sequences play a central role in genome organization and evolution, explaining how these rearrangements form and remain stable.
A study found that expectant mothers are often left to navigate decisions on prenatal screening for Down syndrome without sufficient information or emotional support. The research highlights the need for a national pathway to support families and provide clear information about screenings.
Researchers found the treatment to be safe in all 29 children, with no serious adverse events. The device showed striking reductions in sleep apnea events, with over 95% of children achieving an OAHI reduction of more than 50%. This study provides hope for parents and offers implications for FDA approval and future trials.
Researchers at the University of Arizona Health Sciences will use a precision medicine approach to increase the effectiveness of sleep apnea treatment in people with Down syndrome. The study aims to evaluate the combination of two medications, atomoxetine and oxybutynin, for OSA in individuals with Down syndrome.
A new research paper introduces DoliClock, a biological aging clock based on lipid profiles in the human brain, showing accelerated brain aging in individuals with autism, schizophrenia, and Down syndrome. The study found that dolichol levels serve as reliable biomarkers of aging.
Researchers have identified a previously unknown organelle called the hemifusome that plays a crucial role in cellular sorting and recycling. This discovery could lead to targeted treatments for complex genetic disorders like Hermansky-Pudlak syndrome, which affects multiple systems in the body.
A USC study found that high levels of iron in the brain contribute to cell damage and oxidative stress, accelerating Alzheimer’s symptoms in individuals with Down syndrome. This connection could lead to targeted treatments and improved outcomes for those at risk.
A novel study analyzing the cost-effectiveness of different Down syndrome screening strategies confirms that non-invasive prenatal testing (NIPT) significantly outperforms second-trimester serum screening (STSS). NIPT identifies twice as many DS cases as STSS, offering a more reliable option with lower incremental costs.
A study published in the Journal of Internal Medicine found that individuals with Down syndrome have a higher risk of age-related cardiovascular diseases, particularly ischemic stroke and hemorrhagic stroke. The researchers also noted an increased risk of heart attack in young people with Down syndrome.
Research finds that 40Hz sensory stimulation promotes broad-based restorative neurological health response in mice with Down syndrome. The study shows improved cognition, increased neural activity, and enhanced neurogenesis, suggesting potential therapeutic benefits.
Researchers have initiated a clinical trial using an investigational medicine to lower amyloid precursor protein, targeting Alzheimer's disease in adults with Down syndrome. The study aims to prevent the development of Alzheimer's disease by addressing its underlying genetic cause.
Researchers have identified signs of neuroinflammation and blood-brain barrier dysfunction in patients with Down syndrome Regression Disorder (DSRD). The study, published in Annals of Clinical and Translational Neurology, reveals a potential immune-related cause for DSRD.
A unique case study reveals an unexpected discrepancy between Alzheimer's pathology and cognitive function in a woman with Down syndrome. The study highlights the need to expand inclusion criteria for therapeutic drug trials and uncover genetic or lifestyle factors that contribute to cognitive preservation.
Researchers use CRISPR-Cas9 to remove duplicate chromosomes in trisomy 21 cells, restoring gene expression and cellular phenotypes. The technique shows promise as a potential medical intervention for people with Down syndrome.
The project's recordings help improve voice recognition tools by providing diverse speech patterns to train artificial intelligence models. Microsoft has seen significant improvements in recognizing non-standard English speech, with accuracy gains ranging from 18% to 60%, depending on the speaker's disability.
Researchers have identified the gene DYRK1A as a key driver of 'glue ear' in people with Down syndrome, a middle ear condition commonly known as otitis media with effusion. The discovery paves the way for future targeted therapies to address hearing loss in patients.
A new study by Bar-Ilan University researchers reveals encouraging findings about cognitive growth and development in adults with Down syndrome, challenging previous assumptions. Adults with DS demonstrated higher fluid intelligence, while those with NSID showed more fragmented cognitive connections.
A phase 1/2 clinical trial has demonstrated the safety and effectiveness of the AEF0217 molecule in improving cognitive function in people with Down syndrome. Measured outcomes showed significant improvements in behavioral skills, social interactions, and cognitive flexibility.
The $2.7 million grant will support a network of research sites across the US and Latin America, investigating clinical characteristics and potential differences in care for Latinos with Down syndrome. The study aims to identify risk and resiliency factors that could change the presentation of Down syndrome in diverse cultural contexts.
The Speech Accessibility Project is working with two new partners, The Matthew Foundation and the Massachusetts Down Syndrome Congress, to recruit adults with Down syndrome and other conditions. The project aims to provide voice command devices to improve inclusion and employment opportunities for individuals with disabilities.
A study found that children with Down's syndrome have an elevated number of red blood cells, which increases their risk of developing leukemia. The extra chromosome 21 alters DNA packing and gene regulation, contributing to the development of leukemia.
A four-year grant will help researchers find new clues to the interplay between Down syndrome and myeloid leukemia, focusing on enhancing antileukemic activity of chemotherapy drug cytarabine. The goal is to identify a novel treatment strategy to improve patient outcomes and prevent relapses in ML-DS patients.
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.
Researchers tested lecanemab, an anti-amyloid drug, on brain tissue samples from individuals with Down syndrome, finding it effectively targeted amyloid plaques but also bound to blood vessels. The study highlights the need for careful consideration of safety and potential hemorrhagic complications in people with Down syndrome.
Researchers from the Linda Crnic Institute for Down Syndrome identified lower oxygen availability and dysregulated red blood cell function in individuals with Down syndrome. The study highlights potential targets for effective medical interventions to improve oxygen physiology in this population.
A clinical trial shows that JAK inhibitors improve autoimmune conditions such as alopecia areata, atopic dermatitis, and psoriasis in people with Down syndrome. The study also observed improvements in arthritis and decreased biomarkers of autoimmune thyroid disease.
Researchers have identified distinct molecular and immune subtypes across individuals with Down syndrome, providing new insights for personalized medicine approaches. The study's findings could lead to tailored diagnostics and therapeutic approaches, addressing the unique manifestations of co-occurring conditions.
Researchers found increased liver oxidative stress and impaired antioxidant defenses in a DS murine model. The study suggests potential therapeutic strategies targeting oxidative stress and lipid metabolism to prevent or mitigate liver-related complications.
A new study published in Science Advances documents the first case of Down syndrome in Neandertals, named 'Tina', and reveals that they provided extensive care for a young child with severe hearing loss. The discovery sheds light on the existence of true altruism among Neandertals.
A new study found that physical activity and cognitive training can improve life satisfaction and mood for adults with Down’s syndrome. The Mindsets study involved 83 participants who were assigned to one of four groups for an eight-week period, including a control group, light physical exercise, or BrainHQ activities.
A new study reveals that people with Down syndrome are more prone to developing Alzheimer's disease due to the presence of an extra chromosome 21, which leads to increased amyloid deposits. As a result, cognitive decline occurs in their 50s, whereas autosomal dominant Alzheimer's typically starts later in life.
A new case study suggests that hypoglossal nerve stimulation can improve sleep quality and cognitive development in children with Down syndrome. The procedure has shown promising results in reducing obstructive apnea-hypopnea index and improving neurocognition, offering a potential treatment option for young patients.
A new study found similarities in protein structures of Aβ and tau filaments between individuals with Alzheimer's disease and those with both conditions. This knowledge is crucial for understanding Alzheimer's disease in people with Down syndrome and assessing clinical trial inclusion.
Researchers found that lower activity of the Snhg11 gene in brains with Down syndrome contributes to memory deficits. The study suggests a key role for non-coding RNAs in regulating gene activity and influencing complex traits.
Researchers identified six cases of Down syndrome and one case of Edwards syndrome in ancient human remains from Spain, Bulgaria, Finland, and Greece dating back to 4,500 years ago. The individuals were buried with care and special grave goods, indicating they were appreciated by their societies.
Researchers identified six ancient individuals with an extra copy of Chromosome 21 and another with three copies of Chromosome 18, indicating care and appreciation from their communities. These findings suggest that children with Down Syndrome and Edwards Syndrome were not stigmatized but rather recognized as part of their societies.
Researchers at the Francis Crick Institute and UCL have identified a gene that causes heart defects in Down syndrome, a condition resulting from an extra copy of chromosome 21. Reducing the overactivity of this gene partially reversed these defects in mice, setting the scene for potential future therapies.
A study by the University of Gothenburg found that children born with Down syndrome and congenital heart defects have better survival rates since 1990. However, their mortality rate is still 85% higher than others with a congenital heart defect but without Down syndrome.
The study identifies FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A, regulating its activity and cellular location. This finding may provide potential clinical insights into treating Down syndrome and related diseases.
Researchers at Texas A&M University have been awarded a grant to study bone regeneration throughout the lifespan to benefit individuals with Down syndrome. They hope to understand whether bone regeneration can help people with Down syndrome recover from fractures, and also develop new treatments for limb loss.
A breakthrough study found that light exercise can improve cognitive health in adults with Down syndrome, leading to improved information processing and attention. After just eight weeks of walking, participants showed significant increases in physical fitness and reductions in errors during cognitive assessments.