A new software program, Down Syndrome Clinic to You (DSC2U), has been shown to be effective in improving adherence to US national Down syndrome guidelines. DSC2U aggregates the clinical experience of specialists and connects patients' families with customized information to augment local care providers.
Scientists have identified new genes that are overexpressed in endothelial cells of people with Down syndrome, increasing their risk for leukemia. The study suggests these genes could be therapeutic targets for developing novel treatments and prevention strategies.
A nationwide study found that consuming even half a standard drink per day increases the risk of obesity and metabolic syndrome. The risk rises with alcohol intake, with men and women experiencing higher odds of obesity and metabolic syndrome when drinking more than half a standard drink per day.
A new investigational therapy has shown to prevent the onset of Dravet syndrome symptoms in a mouse model, increasing gene expression up to 100 percent in neurons. The treatment uses an antisense oligonucleotide (ASO) that is reversible and non-invasive.
A new online calculator developed by UVA Health System researchers can predict stroke risk in patients with metabolic syndrome. The tool, available for free, uses a scoring system to assess the severity of metabolic syndrome and identify patients at risk.
Research highlights the link between Alport syndrome genotype and treatment effectiveness with ACE inhibitors and RAS blockers, showing varied responses to treatment depending on mutation type and age of progression to end-stage kidney disease.
Scientists discovered genes with decreased expression in individuals with Down syndrome, which may also protect people from developing solid tumors. These findings could lead to the development of gene-targeted therapies for both people with Down syndrome and the general population.
A study found that two blood epigenetic signatures associated with ADNP syndrome have only modest correlation with clinical manifestations. Researchers conclude that these signatures should be carefully evaluated before being considered as biomarkers for predicting behavioral outcomes.
Primary cilia, acting as cell TVs to detect signals, are present in fewer numbers in mice with Fragile X syndrome. Increasing their number might lead to reversing neurodevelopmental disorders like autism and intellectual disability.
Salk researchers mapped DNA methylation changes over time in mice to better understand developmental disorders. The data help identify regions of the human genome that play roles in diseases such as schizophrenia and Rett Syndrome.
Researchers discovered deposits of the tau protein typically found in Alzheimer's patients in the brain of an autistic child with ADNP syndrome. An experimental drug called NAP successfully restored normal function to damaged nerve cells in models of ADNP syndrome, offering new hope for treating this genetic disorder.
Researchers have made new discoveries about the disruption of condensates in Rett syndrome, a neurodevelopmental disorder. The study found that MeCP2's condensate-forming ability is disrupted in Rett syndrome and suggests that therapies targeting condensates associated with the protein may be promising.
Researchers used RNA editing to correct a genetic error causing Rett Syndrome, repairing half of the normal protein in three types of neurons. The approach shows promise for treating the disorder, which affects 350,000 individuals worldwide.
Researchers successfully edited RNA to correct mutations in the MeCP2 protein causing Rett syndrome, a condition affecting 1 in 10,000 live births. The technique holds promise for treating neurological disorders with genetic mutations spread across thousands of cell types.
A collaborative study has identified NPHS1 as a disease-susceptibility gene for steroid-sensitive nephrotic syndrome in children. Variants in this region of chromosome 19 were found to be associated with the disease, and their impact on nephrin mRNA expression was confirmed.
Barth syndrome is a rare condition with shortened life expectancy due to heart weakness. A recent study found that impaired mitochondrial energy production, specifically the interaction between MCU and cardiolipin, contributes to the pathology of the disease.
Researchers at Kobe University have developed an exon-skipping therapy using antisense oligonucleotides to treat Alport Syndrome, a genetic kidney disease. The treatment was found to be effective in reducing urinary protein levels and suppressing kidney failure in model mice with severe mutations.
Scientists have identified a key mechanism in X chromosome inactivation that may lead to treatments for rare congenital disorders and certain cancers. By understanding how this mechanism works, researchers hope to develop novel medicines for diseases like Rett syndrome.
Researchers at Yale University have made a breakthrough in treating Rett Syndrome, a devastating genetic disorder affecting 1 in 10,000 girls. The experimental cancer drug JQ1 has been shown to extend the life of mice with Rett Syndrome by approximately 50%.
NHGRI researchers have identified genetic mutations associated with PFAPA syndrome, a periodic fever disorder that affects only children. The study reveals commonalities with other inflammatory conditions, including Behçet's disease and canker sores, and highlights the potential for new treatments and diagnostic tools.
Researchers discover Foxg1's role in controlling brain electrical activity, shedding light on rare genetic diseases like Rett Syndrome and West Syndrome. Understanding this mechanism is crucial for developing future therapeutic interventions.
A study published in Evolution Letters found that dog breeds do not exhibit the expected correlation between their physical traits and behavior, contradicting earlier hypotheses. This challenges our understanding of the domestication process and highlights the need to distinguish between domestication traits and improvement traits.
A new UCI-led study suggests that metabolic alterations, rather than just amyloid accumulation, contribute to the development of Alzheimer's disease in people with Down Syndrome. The study found similar energy metabolism deficits in adults with Down Syndrome and Alzheimer's disease, opening up new avenues for prevention.
Researchers discovered that resolvins, specialized lipids, can reduce inflammation and prevent memory loss in a preclinical model of Down syndrome. This finding has the potential to lead to new therapies for Alzheimer's disease, targeting inflammation as a key mechanism in healthy aging.
Researchers at Boston Children's Hospital have successfully used gene therapy to reverse cardiac dysfunction and scarring in two mouse models of Barth syndrome. The treatment, which replaced the mutated TAZ gene, prevented progressive cardiomyopathy and restored heart function in both whole-body and heart-only TAZ deletion mice.
Researchers have made a major breakthrough in understanding the genetics of Down syndrome by identifying a new mechanism involved in its expression. The study found that RCAN1, a gene overexpressed in Down syndrome brains, regulates synaptic plasticity, which affects learning and memory.
A Wayne State University team, led by Miriam Greenberg, is working on potential new targets for treating Barth syndrome, a life-threatening X-linked genetic disorder affecting mainly males. The four-year grant aims to identify specific metabolites as candidates for new treatments.
A new study reveals that exposure to young pups changes signaling within the auditory cortex of female mice with intact Mecp2 gene, allowing neurons to become more responsive. In contrast, female mice with impaired Mecp2 gene show a strong dampening effect, suggesting potential therapeutic targets for Rett syndrome treatment.
A ClinGen panel validated three genes associated with long QT syndrome, disputing nine other genes linked to the condition. The study highlights the need for critical evaluation of gene-disease associations to prevent patient harm.
A study by Anglia Ruskin University found that sleep disturbance is common among young children with neurodevelopmental disorders, including Down's syndrome, Fragile X syndrome, and Williams syndrome. The research showed that improved sleep patterns were associated with better language skills in these children.
A new study published in Blood Advances reveals that patients with metabolic syndrome are more likely to experience recurrent blood clots. The study analyzed 151,054 patients diagnosed with deep vein thrombosis and found that those with comorbid metabolic syndrome conditions had a higher risk of VTE recurrence.
Researchers found that adult female mice exhibit abnormal neuron activity when learning to respond to young pups' distress cries. The findings suggest potential therapeutic strategies for Rett syndrome, a rare neurodevelopmental disorder affecting brain rewiring in adults.
Researchers found that fenfluramine significantly reduced convulsive seizures in Dravet syndrome patients, with a 62% decrease in seizures per month. The study also showed improvements in seizure-free intervals and parental assessments of child improvement.
A randomized controlled trial found that fenfluramine reduced convulsive seizures by 62% in patients with Dravet Syndrome. Low-dose fenfluramine also showed significant reductions in seizure frequency, while side effects were manageable.
Researchers have found that dietary supplements can improve the clean-up process in cells called mitophagy, which breaks down defective mitochondria, thereby delaying aging processes in animal models with Werner Syndrome. This study provides promising results for potential treatments and understanding of the mechanisms of aging.
Researchers found that xanthohumol and its derivatives can decrease microbiome diversity while reducing inflammation and improving energy metabolism in laboratory animals with high-fat diets. The study suggests that hops compounds may help combat metabolic syndrome by altering bile acid metabolism and changing gut microbiota.
Researchers found that recovering from metabolic syndrome significantly reduced the risk of cardiovascular disease in a nationwide population-based cohort study. In contrast, developing or remaining in metabolic syndrome was associated with an increased risk of cardiovascular disease.
A team of researchers, led by Gholson Lyon, MD, PhD, has published a study on TAF1 syndrome, identifying brain morphological abnormalities, seizures, hearing loss, and heart malformations. The findings broaden the phenotypic spectrum of TAF1/MRXS33 intellectual disability syndrome.
Researchers at the University of Missouri conducted a longitudinal study on catatonia in Down syndrome, identifying Lorazepam and electroconvulsive therapy as effective treatments. The study highlights the need for sustained treatment to maintain recovery long-term.
Researchers found that inhibiting the integrated stress response (ISR) reversed memory deficits in a mouse model of Down syndrome. The study suggests that modulating ISR networks may help treat Down syndrome and other disorders resulting from disruption of this network.
A study found that children with Down syndrome are at an increased risk of developing inflammatory and erosive arthritis. Researchers estimate that around 20 per 1,000 children with Down syndrome have this condition.
Patients with Down syndrome arthropathy experience a 11.5-month delay in diagnosis from symptom onset, and optimal therapy remains unclear due to medication intolerance and ineffectiveness. The study aims to raise awareness and improve screening for this condition.
A new study shows that nearly all adults with Down syndrome harbor signs of dementia by age 40, and by age 55, three in five will be diagnosed with Alzheimer's disease or a similar neurodegenerative condition. The study highlights the need for early diagnosis and support services for people with Down syndrome as they age.
A recent NIH-funded study highlights the need for research on aging individuals with Down syndrome. The analysis reveals that nearly a third of those aged 55+ have filed at least three claims for Alzheimer's disease.
A new study by Barcelona Institute for Global Health found that long-term exposure to green spaces can prevent metabolic syndrome and its individual components. The study analyzed data from over 6,000 adults in the UK and found a significant association between green space exposure and lower risk of metabolic syndrome.
Children with Down syndrome are 10-20 times more likely to develop Acute Lymphoblastic Leukemia (ALL) than children without the condition. Researchers at Baylor College of Medicine have made breakthroughs in understanding this risk, identifying genetic variants associated with increased ALL susceptibility.
Researchers found that CBD substantially lessened seizure severity in mice and restored normal brain rhythms in Angelman syndrome models. The study suggests CBD could benefit kids and adults with this serious condition, characterized by intellectual disability and epilepsy.
Researchers have unraveled a mechanism to reactivate 'back-up genes' on the inactive X chromosome, which could help treat Rett syndrome and other X-linked disorders. The study found that different genes require varying amounts of time to become active again, with location and proteins playing key roles.
A Yale study has trained adolescents with Tourette Syndrome to control their tics through real-time fMRI, achieving significant symptom reductions. The technique, called rt-fMRI-NF, involves monitoring brain activity in real time and adjusting it towards healthier patterns.
Researchers have developed an AI algorithm that can detect abnormal pupil dilation and heart rate patterns in mice with autism-like features. In a study, the algorithm accurately identified 80% of girls with Rett syndrome and showed promise for early diagnosis of autism spectrum disorder.
Huda Zoghbi, MD, is recognized for her contributions to the field of human genetics, including discoveries of genes responsible for Rett syndrome, spinocerebellar ataxia type 1, and other conditions. Her work has enriched the development of human genetics and its applications in science, medicine, and health.
A phase I clinical trial demonstrates the potential of regenerative therapy for hypoplastic left heart syndrome through collecting, processing and injecting an infant's own stem cells directly into the heart at the time of surgery. The study showed no deaths or significant safety concerns over six months following surgery.
A machine learning algorithm identified altered pupil diameter fluctuations in mouse models of autism spectrum disorders, allowing early detection of developmental disorders. The algorithm distinguished Rett syndrome patients from controls based on heart rate fluctuations, suggesting a potential biomarker for early detection.
Researchers discovered 43 specific genetic mutations required for leukemia development in children with Down syndrome. The study identified additional genetic changes transforming preleukaemic cells into leukaemic ones.
Researchers found that probiotic bacteria Pseudomonas fluorescens reduces the impact of white-nose syndrome in bat populations about five-fold. The treatment lengthened the amount of time bats stayed in the mine, allowing them to recover from the disease and emerge during spring-time when insects are available.
Researchers at Ohio State University report a significant reversal of metabolic syndrome in over half of participants after just four weeks on a low-carb diet. Despite no weight loss, the low-carb diet improved triglyceride levels and cholesterol readings, and increased fat-burning efficiency.
A dietary supplement called L-serine has been shown to improve the neuronal function of a patient with a mutation associated with atypical Rett syndrome. The study, led by Dr Xavier Altafaj, found that supplementation with L-serine reversed alterations caused by the mutation and improved the patient's motor and communicative abilities.
Researchers at UNIGE discovered that the development of the hippocampus, responsible for memory and emotions, is severely impacted in adolescence following the onset of psychotic symptoms. The study suggests that a 'second hit' later in development may determine further hippocampal atrophy and psychotic symptom emergence.
A new case study published in the Journal of Palliative Medicine reports a unique example of a patient with ALS who overcame nausea and vomiting linked to chronic cannabis use by reducing, but not discontinuing, cannabis use. This finding adds to clinicians' ability to respond to rare adverse effects of medical cannabis use.
Researchers developed stem cell-based disease models to investigate early brain development linked to Down syndrome. They found that inhibiting the OLIG2 gene improved cognitive function in mouse models, suggesting it as a potential prenatal therapeutic target.