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.
Researchers at the University of Pittsburgh have discovered a potential new target for treating Barth syndrome, a rare genetic disease with devastating consequences. They identified a molecular culprit that could be targeted to potentially reverse the disease course and developed a small-molecule drug candidate to correct genetic tafaz...
A team of researchers aims to develop drug therapies by targeting genes that affect metabolism in people with Down syndrome, potentially improving their quality of life. The project will focus on the protein SIM2, which has been linked to breast cancer and metabolic changes in individuals with the condition.
A new study by Boston University School of Public Health finds that adults with Down syndrome are more consistently enrolled in Medicaid and utilize more healthcare services than people without developmental disabilities. However, racial disparities exist, with White individuals having greater access to care.
New research from Cold Spring Harbor Laboratory explores how adult brains adapt through critical periods of learning, such as caring for young. MECP2 dysfunction causes neurodevelopmental disorder Rett syndrome, but the study finds that brain circuits can be rapidly rewired in adults.
Researchers found that a compound derived from hops, TXN, can combat metabolic syndrome by reducing the population of Oscillibacter species in the gut microbiome. This reduction leads to reduced inflammation in adipose tissue and improved glucose metabolism.
A study by researchers at the University of Tokyo found that the presynaptic Ube3a E3 ligase molecule plays a key role in eliminating neural synapses. This discovery offers insights into developmental disorders such as Angelman syndrome and autism spectrum disorders.
Researchers have discovered two major mechanisms that contribute to the high risk of complications from lung infections in individuals with Down syndrome: poor ciliary function, which impairs the respiratory tract's ability to clear mucus and viral particles, and immune hyper-reactivity, which leads to an overactive immune response. Th...
A University of Otago study found that children who watched more TV as kids were more likely to develop metabolic syndrome in adulthood. The research, published in Pediatrics, associated prolonged screen time with a higher risk of overweight and obesity in mid-adulthood.
A study found that activity-friendly neighborhoods with destinations, walkability, and amenities reduce the likelihood of metabolic syndrome. Residing in such areas encourages physical activity, social interaction, and reduces reliance on cars.
Researchers are studying the characteristics of fragile X-associated tremor ataxia syndrome (FXTAS), aiming to develop treatments for this debilitating condition. The study focuses on understanding the phenotype of FXTAS, including its progression and impact on males and females.
Research reveals chronic immune dysregulation in Down syndrome, with high interferon activity linked to autoinflammation and metabolic changes. Repurposing JAK inhibitors shows therapeutic benefits in reducing inflammation without suppressing the immune system.
A study found improved adherence to AAP guidelines for children with Down syndrome after implementing electronic health record integrations, coinciding with the COVID-19 pandemic reopening. The intervention resulted in higher follow-up visit adherence (69%) and improvements in audiology and sleep study components.
Researchers at the University of Colorado Anschutz Medical Campus have discovered a molecular mechanism contributing to congenital heart defects in infants with Down syndrome. The study found that an abnormal interferon response inhibits key molecular events required for heart development, leading to impaired cardiogenesis.
A long-term study found that women experiencing moderate to severe hot flashes after menopause are more likely to develop metabolic syndrome and hypertension. Hormone replacement therapy may help prevent these conditions.
Gene therapy is being tested for rare skeletal dysplasia, affecting 1 in 200,000. Patients will receive a one-time infusion of viral vector containing correct gene sequence.
In people with Rett syndrome, nerve cells have a mechanism called transcriptional buffering to partially compensate for genetic changes. This process helps maintain healthy RNA levels and acts as a defence against genetic variations, suggesting a potential new molecular mechanism in human cells.
A study published in Development found that mice with a third copy of the Dyrk1a gene exhibit shortened skull length and widened head diameter, similar to humans with Down Syndrome. The researchers identified three other genes also contributing to craniofacial dysmorphology, providing insights into the genetics of Down Syndrome.
Researchers found that an extra copy of a gene controlling synapse formation causes excessive inhibitory signaling in the brain of mice with Down syndrome. This may contribute to conditions such as autism, epilepsy, and bipolar disorder.
A study by researchers at the University of Michigan found that an extra copy of the DSCAM gene in mice with Down syndrome causes improper neuron development and excessive inhibition. This discovery suggests modulation of DSCAM expression levels could be a viable therapeutic strategy for repairing synaptic deficits seen in Down syndrome.
Researchers developed an ASO treatment that improves bile duct development and prevents fibrosis and cell death in animal models of Alagille syndrome. The study offers a potential therapeutic option for patients with this condition, potentially bypassing the need for liver transplant.
Alpha-gal syndrome is an allergy caused by lone star tick bites, leading to symptoms like stomach pain, diarrhea, and nausea. Patients with suspected alpha-gal should undergo a blood test to check for immunoglobulin E antibodies, and the main treatment is avoiding foods containing alpha-gal.
Researchers created a new mouse model of Down syndrome with milder cognitive traits, showing promise for developing precise treatments. The study's findings may help address the limitations of previous models and improve cognitive function in individuals with Down syndrome.
A new study published in PLOS One demonstrates the potential of machine learning and artificial intelligence to aid in the development of new treatments for Rett syndrome. The researchers used a wearable electronic chest patch to monitor cardiac activity and movement, and developed an algorithm that identified patterns specific to seve...
Scientists have identified key players in the adaptive immune response as culprits for most autoimmunity in people with Down syndrome. The researchers found that many individuals with Down syndrome are in a perpetual state of inflammation comparable to those without the disorder who are in intensive care.
Researchers at Children's Hospital of Philadelphia developed two new zebrafish models for studying SURF1 mitochondrial disease, a major cause of Leigh syndrome. The team identified two drugs, cysteamine bitartrate and N-acetylcysteine, that showed potential in preventing neurological decompensation in patients with Leigh syndrome.
A new nonhuman primate model of Usher syndrome has been confirmed, providing hope for the development of a treatment for this leading cause of blindness-deafness. The model, created using CRISPR/Cas9 technology, exhibits symptoms similar to those experienced by humans with the condition.
A study found that unintentional weight loss in people with Down syndrome coincides with brain changes associated with Alzheimer's disease, indicating it could be an early predictor. The researchers suggest that weight loss may be a useful tool for making an earlier diagnosis.
Researchers at NYU Langone Health identified the genetic basis of VEXAS syndrome in 2020, now estimating its prevalence among US men and women over 50. The study found that approximately 1 in 4,269 American men over age 50 and 1 in 26,238 women may develop the syndrome.
Researchers found that abnormal methylation processes lead to disruption of gene expression essential for brain development in people with Williams syndrome. The study suggests targeting treatments to correct these disruptions.
A study funded by NIH found that people with Down syndrome have a similar level of amyloid plaques in their brains as those with hereditary, early-onset Alzheimer's. This suggests that individuals with both conditions may benefit from participating in studies on Alzheimer's therapies aimed at slowing amyloid plaque formation.
A minimally invasive treatment for carpal tunnel syndrome provides complete and long-term relief to patients. Ultrasound-guided hydrodissection effectively treats nerve entrapments without surgery or corticosteroids.
A recent study published in Journal of Science and Medicine in Sport reveals that high aerobic fitness does not protect children from metabolic syndrome. In contrast, a lower risk was observed when considering body size and composition.
Individuals with Down syndrome experience less frequent but more severe viral infections, attributed to increased type I interferon expression. This leads to hyperactive immune responses initially, followed by overcorrection, resulting in increased vulnerability late in the viral attack.
A new study by Queen Mary University of London reveals that children and young adults with Down Syndrome are four times more likely to be diagnosed with type 2 diabetes. The research, which examined over 9,000 individuals with Down Syndrome, found a 10-fold increased risk of developing the condition in those aged five-14.
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 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.
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 RCSI found that patients with Long COVID syndrome have a blood-clotting imbalance due to high levels of von Willebrand Factor and low levels of ADAMTS13. The study suggests that this imbalance contributes to symptoms such as shortness of breath and fatigue.
A RCSI study has found that babies born with Down Syndrome experience impaired changes in heart function and blood pressure in their lungs over the first two years of age. The research suggests that all babies with Down Syndrome should have their heart function monitored during childhood due to these common issues.
A recent study found that overnight EEGs can predict Rett syndrome with 90% accuracy and identify specific patterns associated with different subtypes of the disorder. This breakthrough could lead to the development of more refined interventions and improved care for girls with Rett syndrome.
Newborn neurons in Rett syndrome organoids migrate slowly and erratically compared to non-mutated cells. The study provides new insight into how MECP2 mutations affect brain development, revealing larger ventricles and thinner neural zones.
Researchers at the Salk Institute discovered that genetic mutations disrupt RNA splicing in Wiskott-Aldrich syndrome, leading to bleeding and immune deficiencies. This finding suggests new targets for treatment with small molecule drugs and sheds light on the basic biology of RNA splicing.
Researchers developed a convolutional neural network to identify fetuses with Down Syndrome from ultrasound images. The model achieved high accuracy, improving detection by over 15% compared to existing methods. Non-invasive screening could become a convenient and inexpensive tool for early pregnancy diagnosis.
Researchers discovered common mutations and dysfunction in myotonic dystrophy type 1 and Rett syndrome using brain organoids. The study suggests that targeting NMDA receptors may ameliorate cognitive impairments in young patients with DM1.
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.
The INCLUDE Data Hub provides centralized access to large-scale research resources, including biospecimen libraries and clinical datasets, for the study of Down syndrome. With over 8,000 study participants and 30,000 biospecimens, researchers can accelerate discoveries that benefit people with Down syndrome.
Researchers created a zebrafish model to study Bloom syndrome, uncovering similarities and species-specific novelties. The study found reduced fertility and shorter lifespan in mutant zebrafish, which are entirely male.
The international consensus on diagnosing and treating opsoclonus-myoclonus syndrome has been published, providing support for families and clinicians. The guidance outlines the condition's characteristics, causes, and management options, aiming to improve care for affected children.
A proof-of-concept study suggests that postnatal gene therapy may prevent or reverse deleterious effects of Pitt-Hopkins syndrome, a rare genetic disorder. The treatment restored normal activity of the deficient gene, preventing anxiety-like behavior and memory problems in an animal model.
Researchers at Massachusetts General Hospital have discovered a new class of biological factors that can be targeted by small molecule drugs, including noncoding RNAs. This breakthrough could lead to new therapies for genetic disorders such as Rett syndrome and Fragile X syndrome.
A new study shows that a potential treatment for Alzheimer's disease, sargramostim, improves cognitive function in people with Down syndrome and normal aging mice. The drug reverses learning and memory deficits, nerve cell loss, and brain abnormalities in mouse models of Down syndrome and aging.
Researchers from Children's Hospital of Philadelphia found that dysfunction in a key brain cell subtype contributes to chronic symptoms in Dravet syndrome. The study suggests that increasing expression of Nav1.1 in parvalbumin interneuron axon may be a viable therapeutic target for patients.
A study found that 25.3% of children with mild head injuries continue to suffer from persistent post-concussion syndrome for years, often misdiagnosed as ADHD or sleep disorders. The syndrome causes chronic symptoms like forgetfulness, memory problems, and sensitivity to light and noise.
Researchers found that Rett syndrome mice have larger and more correlated ensembles of neurons, suggesting reduced inhibition. Activating somatostatin-expressing inhibitory neurons improved contextual memory recall in Rett mice.
Researchers have genetically engineered a rat model of Down syndrome to test new therapies and explore the condition's unique genetics. The rats exhibit cognitive impairments, anxiety, and hyperactivity similar to humans with Down syndrome, providing a valuable tool for medical research.
A study at Duke-NUS Medical School found that inhibiting IL-11 can reduce kidney damage, inflammation, and scarring in Alport syndrome mice. Combining this therapy with ACEi treatment increased lifespan by over 400%.
Researchers found an association between certain cancers and Guillain-Barré syndrome, with people diagnosed with lymphomas, blood cancers, lung, prostate, or breast cancer having a higher risk. The study suggests that unidentified factors in several types of cancer may contribute to this increased risk.
Researchers from the Mitochondrial Medicine Frontier Program at CHOP found that primary developmental delays are a common symptom of Leigh syndrome, occurring even before metabolic stroke and regression. These delays are associated with poor long-term educational outcomes and worse disease progression.