Taking long naps or being excessively tired during the day is linked to a higher risk of developing metabolic syndrome, which includes high blood pressure, high cholesterol, and obesity. The study found that napping for 40 minutes or longer was associated with a significant increase in metabolic syndrome risk.
Researchers identified four genes XPO1, BCL11A, REL, and USP34 as responsible for a rare chromosomal deletion disorder. The study found that loss of these genes leads to intellectual disability, microcephaly, and other symptoms.
A recent study by MGHfC found that positive attitudes tend to dominate within modern-day families who have members with Down syndrome. In fact, 87% of families reported feeling love for their family member and being proud of them, despite some small minorities reporting negative attitudes.
ESTEVE has developed two new investigational gene therapies, EGT-201 and EGT-301, to treat Sanfilippo B syndrome and Hunter syndrome. The treatments join a promising gene therapy platform aimed at restoring enzyme function in patients with severe and debilitating rare diseases.
Harvard researchers have identified a disrupted signaling pathway that, when corrected, can ameliorate symptoms of Rett syndrome in mice. The findings may lead to the discovery of compounds or drugs that can benefit children affected by the disease.
A new study led by University at Buffalo researcher Jill Kramer aims to re-examine the role of IgM in Sjögren's syndrome. The research seeks to understand whether this protective antibody is also pathogenic, potentially leading to a better understanding of autoimmune diseases.
Researchers have identified a novel drug target for treating Rett Syndrome and other forms of autism-spectrum disorders. By increasing KCC2 function in diseased nerve cells, the treatment may alleviate symptoms and improve brain development.
The NIH NCATS RDCRN funded 11 sites to study the natural history of Rett syndrome, MECP2 Duplication, CDKL5 disorder, and FOXG1 syndrome. Rettsyndrome.org announces an additional investment of $65,000 to add three more sites, bringing the total to 14, expanding geographical access and clinical infrastructure.
Researchers found that patients with IBS have reduced sensitivity in their gut nerves, contradicting previous theories of over-sensitivity. This desensitization could be a protective measure to prevent overstimulation.
Overweight and obesity are strong predictors of metabolic syndrome in menopausal women. Women who experienced menopause during the study had a higher risk if they were overweight or obese, with risks increasing by up to 12 times for those who were obese.
Scientists at Johns Hopkins University have uncovered the molecular cause of peripheral nervous system dysfunction in Down syndrome. A gene called RCAN1 appears to be overactive, hindering nerve growth and development, which may contribute to heart disease, diabetes, and immune disorders associated with the condition.
A geneticist has used powerful internet and social media tools to find doctors and researchers worldwide to confirm a new X-linked intellectual disability syndrome in young boys. The syndrome is characterized by severe developmental delays, facial malformations, and generalized hypotonia, with 14 cases involving 11 unrelated families.
A study published in Nature reveals that MECP2 Duplication Syndrome can be reversed using an antisense oligonucleotide strategy. The therapy, tested on adult mice with the condition, normalized symptoms after four weeks and restored normal brain function.
Researchers at Baylor College of Medicine discovered a new potential treatment for MECP2 duplication syndrome by normalizing MeCP2 levels using antisense oligonucleotides. This approach largely reversed behavioral, molecular, and other deficits in mice, providing hope for human treatment.
Researchers at Temple University Health System have identified a regulatory enzyme defect in Down syndrome that also malfunctions in Alzheimer's disease, leading to the formation of toxic amyloid plaques in the brain. This discovery could lead to the development of a targeted therapy to mitigate dementia in Down syndrome.
Researchers at Weizmann Institute discovered a subtype of immune cells that prevent metabolic syndrome by regulating inflammation-causing T cells. Mice lacking these cells became overweight and developed symptoms of metabolic syndrome.
Pediatric researchers have developed new growth charts for U.S. children with Down syndrome, providing a tool for pediatricians to evaluate growth patterns and nutritional status. The new charts show improvements in weight gain and height for children under age three, while also creating BMI charts to screen patients for excess body fat.
A recent study suggests that offering pregnant women a DNA test for Down's syndrome on the NHS could reduce the number of invasive tests and potentially save lives. The 'cell-free' DNA test has been found to be highly reliable and can be easily incorporated into routine clinical care within the NHS.
Rettsyndrome.org has made a financial commitment to support Phase 2 and Phase 3 clinical trials of trofinetide in adult women and children with Rett syndrome. The organization is hopeful that these trials will be successful and lead to the first potential treatments for Rett syndrome.
Research shows that people with metabolic syndrome absorb less vitamin E than healthy individuals. Cow's milk, however, can promote the absorption of natural vitamin E found in foods, particularly when consumed with fat.
A study published in Frontiers in Behavioral Neuroscience has confirmed the pathogenic role of beta amyloid in dementia, both in Down syndrome and Alzheimer's disease. Researchers found that people with Down syndrome develop abnormal protein at twice the rate, providing insights into how Alzheimer's naturally progresses.
A systematic review and meta-analysis of 11 million patients found that diabetic women are 40% more likely to suffer acute coronary syndromes than diabetic men. The study highlights the need for comprehensive risk control and early diagnosis in female patients with diabetes.
The American Gastroenterological Association recommends testing all newly diagnosed cases of colorectal cancer to identify Lynch syndrome, a genetic disorder that increases the risk of colorectal and endometrial cancers. Regular surveillance colonoscopy is also recommended for individuals with Lynch syndrome.
Researchers have identified a histone deacetylase inhibitor that reverses MECP2 alterations in mutant neurons, offering hope for treating the devastating neurological disorder. The breakthrough uses stem cell-derived 'mini-brains' to screen potential drug libraries, providing an efficient method for finding effective treatments.
The Massachusetts Rett Syndrome Association and Rettsyndrome.org are partnering to support a Phase 2b clinical trial of IGF-1 for the treatment of Rett syndrome. The trial, funded by a $439,000 grant from Rettsyndrome.org, aims to develop new biomarkers and treatments for the condition.
Research identifies a key trouble spot in the brain that contributes to intellectual disability in Down syndrome, shedding light on disrupted brain networks. The study suggests therapies targeting these networks may be beneficial for future treatments.
The Endocrine Society recommends tumor removal as the first-line treatment for endogenous Cushing's syndrome. This approach is optimal because it preserves the hypothalamic-pituitary-adrenal axis, which is crucial for the body's central stress response. Other treatment options include medication and radiation therapy.
Researchers develop new approach to treating Rett syndrome by extending lifespan and improving behavioral symptoms in mouse models. The treatment targets PTP1B, an enzyme with abnormal levels in the disorder, restoring BDNF signaling and promoting neural growth.
A study by UCLA and University of Pittsburgh researchers has isolated specific genetic differences between people with DiGeorge syndrome who have autism and those who have psychosis. The findings suggest a potential way to determine which child is at risk for which disorder, allowing for early intervention and improvement.
Scientists have discovered a mutated gene, JMJD1C, responsible for cases of unknown origin intellectual disability and autism. The study analyzed the genome of 215 patients with these conditions and found that this gene contributes to Rett syndrome.
Rettsyndrome.org announces new Translational Research Awards to tackle nonsense mutations in MECP2 gene, aiming to develop treatments for Rett syndrome. The awards include the Read-Through Program and Neuro-Habilitation grants, furthering research towards new pharmacologic treatments and improved clinical practices.
Researchers discovered differences in brain inflammation between people with Down syndrome and Alzheimer's disease alone. The study found higher levels of inflammatory markers M2b in Down syndrome-related Alzheimer's, highlighting the need for tailored treatments.
New brain-imaging research has found that the cortex is thicker on average in youth with Down Syndrome than in typically developing youth, despite lower overall cortical volume. This finding may provide new insights into early onset Alzheimer's disease susceptibility in individuals with Down Syndrome.
A Swedish study estimates the heritability of tic disorders at approximately 77%, suggesting a strong familial component. The study also reveals that risks are higher for full siblings, parents, and children of individuals with Tourette syndrome or chronic tic disorder.
Researchers have identified the epicenter of the brain's predictive ability in limbic tissue, which also plays a key role in emotions. This discovery challenges traditional theories on emotion and suggests that the brain is wired to ask questions about past experiences rather than react to external stimuli.
Researchers have identified and corrected defects in diseased cells, restoring normal activity in Cockayne syndrome patients. The study reveals the role of an enzyme, HTRA3 protease, in mitochondrial defects that contribute to premature aging. Therapeutic strategies using HTRA3 inhibitors or antioxidants may soon be tested in patients.
People with metabolic syndrome face a higher risk of cardiovascular death than those without the condition. The study found that having diabetes or high blood pressure significantly elevates this risk. Women with metabolic syndrome were also at a greater risk of death from any cause compared to their male counterparts.
Researchers at the University of Iowa found no benefit from bone marrow transplantation in mice models of Rett syndrome, contradicting earlier findings. The study suggests that the initial results were due to factors other than those considered in the new experiment.
A study published in JAMA Network found that nearly 35 percent of all U.S. adults and 50 percent of those 60 years or older had metabolic syndrome in 2011-2012. The condition is characterized by a combination of health conditions including obesity, high blood pressure, type 2 diabetes, and poor lipid profiles.
Researchers found that FDA-approved cancer drugs nilotinib or bafetinib can prevent overgrowth of neuron endings associated with Down syndrome and Fragile X syndrome. The study used fruit fly models, showing the drugs did not harm healthy brain development.
A study published in Neuropsychiatric Disease and Treatment found that Catatonia is a treatable cause of regression in individuals with Down syndrome. Patients treated for Catatonia showed improvement, regaining baseline functioning.
Researchers discovered that macrophages play an unexpected role in Rett syndrome, amplifying the disease instead of helping it. The study suggests modulating the immune system could delay symptom onset and slow disease progression.
Genetic markers have been identified for large offspring syndrome (LOS) in cattle, a condition that can cause physical abnormalities and fatalities in newborn calves. This discovery may lead to safer assisted reproduction procedures by allowing breeders to avoid genetically predisposed embryos.
Researchers found a strong association between migraines and carpal tunnel syndrome, with 34% of patients with carpal tunnel also reporting migraines. Further studies are needed to understand the connection and potential preventive measures.
The Alana Foundation has awarded $1.7 million to Case Western Reserve University and MIT to advance research on new chemical compounds for treating Down syndrome. The study will test the effects of these compounds on cells involved in cognitive function, aiming to improve cognitive abilities in individuals with the condition.
Researchers at the University of Virginia Health System identified a surprising contributor to Rett syndrome: immune cells bearing a mutated MeCP2 gene. These macrophages amplify disease progression by failing to maintain tissue homeostasis, highlighting the immune system as a promising therapeutic target.
Researchers found that highly fit smokers had a 48% lower risk of metabolic syndrome compared to those in low fitness categories. Additionally, moderate fitness levels were associated with reduced risks for elevated fasting blood glucose and abnormal HDL cholesterol levels.
Researchers discovered that MeCP2 binds to non-CG methylation patterns in the adult brain, which is unique to maturing and adult nervous systems. This finding explains why Rett syndrome symptoms appear after one to two years of age.
A blood test between 10-14 weeks of pregnancy accurately diagnosed all 38 fetuses with Down syndrome, surpassing standard non-invasive screening techniques. The cell-free DNA blood test correctly identified fetuses with two other less common chromosomal abnormalities.
Researchers found that nearly one in five college students experience 'exploding head syndrome,' a condition characterized by loud, non-existent noises. The study also discovered a link between exploding head syndrome and isolated sleep paralysis, affecting over one-third of those affected.
A two-year clinical trial using low doses of ketamine may hold promise for reversing the devastating symptoms of Rett Syndrome, a neurodevelopmental disorder found almost exclusively in females. The trial aims to measure changes in breathing patterns and overall clinical severity among up to 35 participants.
Researchers found that mutations in MECP2 lead to increased expression of long genes, which are often greater than 100,000 nucleotides in length. This overexpression may be a distinctive signature of Rett Syndrome and related disorders.
A recent study has found that mutations in the APC2 gene cause Sotos-like symptoms, including nervous system-related issues and abnormal brain structure. The research team also discovered that APC2 is a crucial downstream gene of the NSD1 gene, which is responsible for Sotos syndrome.
Susac syndrome is a rare autoimmune disease causing acute confusion, hearing problems, and eyesight issues. It is often misdiagnosed as multiple sclerosis or ADEM, but may be considered in young patients with unexplained acute onset of confusion and abnormal spinal fluid tests
The non-invasive first trimester blood test reliably detects Down syndrome in over 99% of cases, making it superior to other testing methods.
A landmark study in remote Fitzroy Valley communities in Western Australia found that one in eight children have Fetal Alcohol Syndrome, a preventable condition. The research, led by Aboriginal community leaders, provides Australia's first comprehensive data on the prevalence of Fetal Alcohol Syndrome in remote communities.
Rettsyndrome.org has awarded over $3.1 million in grants to researchers worldwide, focusing on basic, translational, and clinical research for Rett syndrome treatment and therapy development. The organization aims to accelerate research from discovery to medicine, covering a spectrum of Rett syndrome research.
A new study has identified the SUFU gene mutation as a major contributor to Gorlin syndrome-associated childhood medulloblastoma, significantly increasing the risk of brain tumors in children with this condition. This finding has major implications for treatment and screening protocols for children with Gorlin syndrome.
Researchers found a commonly prescribed muscle relaxant may be an effective treatment for Wolfram syndrome, a devastating form of type 1 diabetes. Dantrolene blocks the enzyme calpain 2, which causes cell death in insulin-producing cells.
Researchers at Georgia State University and Cornell University found that promoting healthy gut microbiota can treat or prevent metabolic syndrome. The study used an improved technical approach to show that altered bacterial populations promote low-grade inflammation and metabolic syndrome.