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.
Researchers established induced pluripotent stem (iPS) cells from Werner syndrome fibroblasts, which can be used for drug discovery and gene therapy. The iPS cells have recovered telomeric abnormalities and similar expression levels of aging-related genes as normal iPS cells.
Researchers found that Losartan, an angiotensin receptor blocker, is as effective as beta blockers in slowing the growth of the aorta in patients with Marfan syndrome. The study included 608 patients and showed similar rates of tears in the aorta and no difference in deaths between the two groups.
A new treatment for Marfan syndrome, losartan, has shown comparable effectiveness to the commonly prescribed medication atenolol in managing heart issues. The study found no evidence that losartan is superior to atenolol but offers a reasonable alternative for patients who can't take beta blockers.
Repeat testing after puberty revealed abnormal electrocardiogram findings in most individuals with a first-degree relative with Brugada syndrome. This suggests the need for repeated monitoring of family members of patients with Brugada syndrome, even those initially considered at low risk due to young age.
A new ECG device, QTScreen, has the potential to identify infants at risk of long QT syndrome, a genetic heart condition that can be treated with medication. The device will be tested on 4,000 babies in Southern California and is designed to be easy to use for parents.
The NIH has awarded a $29 million cooperative agreement to investigate four rare disorders: Rett syndrome, MECP2 Duplications, CDKL5 disorder, and FOXG1 syndrome. The study aims to understand the core clinical features of each disorder and identify factors that can modify their severity.
A study of individuals with Down syndrome has identified large rare deletions involving cilia genes as common causes of congenital heart defects. The research also suggests that these genetic alterations may impact other organs beyond the heart, leading to personalized healthcare approaches for affected individuals.
Researchers found that reduced levels of SNX27 protein lead to increased beta-amyloid production and brain plaques, a hallmark of Alzheimer's disease. Adding new copies of the SNX27 gene can repair memory deficits in Down syndrome mice.
A Mediterranean diet supplemented with extra-virgin olive oil or nuts helps reduce central obesity and blood glucose levels, reversing metabolic syndrome in 28.2% of participants. The study found no significant difference in new cases of metabolic syndrome between the two diet groups.
Researchers found that feeding mice with Rett syndrome a diet supplemented with triheptanoin improved their physical and behavioral symptoms. The oil helped normalize body fat, glucose, and fat metabolism, and increased social interest in other mice. The study offers potential hope for dietary treatment of autism spectrum disorders.
A study published in Current Biology found that individuals with Tourette syndrome have elevated concentrations of GABA in a specific brain region, which may lead to improved motor control. This increase in GABA levels could provide new targets for non-drug therapies, such as brain stimulation, to help manage symptoms.
Researchers studied adults with Down syndrome to understand the role of amyloid-β protein in memory and cognitive function. Contrary to expectations, many individuals with elevated amyloid-β levels did not exhibit negative consequences, highlighting the complexity of Alzheimer's disease.
A recent study found that symptoms of autism were unusually common in people with Jacobsen syndrome, a rare genetic disorder affecting approximately 1 in 100,000 people. The study suggests that knowing this connection can help families investigate early intervention treatments to support their children.
Rettsyndrome.org has awarded $1.5 million to support translational research and launch of the neuro-habilitation therapeutic program, focusing on cognitive therapies, physical therapies, and speech therapies to aid in skill development in Rett syndrome. The grants also fund clinical research to identify effective pharmacologic treatments.
Researchers found that reducing brain levels of tau protein effectively blocks disease development in a mouse model of Dravet syndrome. This approach also improved cognitive and behavioral abnormalities associated with the syndrome.
The Rett Syndrome Association of Massachusetts has donated $150,000 to support a Rettsyndrome.org approved grant to Dr. Michela Fagiolini's project at the Boston Children's Hospital. The goal is to assess NMDA receptor modulators for potential treatments in girls diagnosed with Rett syndrome.
The US Multi-Society Task Force on Colorectal Cancer recommends genetic testing of tumors for all newly diagnosed colorectal cancer patients with a familial risk of the disease. Genetic testing can confirm the diagnosis of Lynch syndrome and direct management for affected individuals, as well as family members.
A new study found that following a healthy lifestyle may lower childhood cancer survivors' risk of developing the metabolic syndrome. Adults who had cancer as children are at increased risk, and lifestyle habits can influence long-term health outcomes.
A St. Jude Children's Research Hospital study found that 73% of adult childhood cancer survivors doubled their risk of metabolic syndrome by failing to follow a heart-healthy lifestyle, which also increases the risk of heart disease, diabetes, and other health problems.
Researchers have discovered an enzyme that stimulates the overproduction of fatty acids and triglycerides, leading to insulin resistance and diabetes. A new drug candidate is being developed to target this enzyme, potentially treating metabolic syndrome.
Researchers used large-scale patient data analytics to predict future risk of metabolic syndrome, identifying individual variable impact on risk associated with adherence to prescribed medications and routine doctor visits. The study also found that improving waist circumference and blood glucose yielded the largest benefits.
A large-scale clinical study found that adults with Asperger Syndrome are nine times more likely to experience suicidal thoughts compared to the general population. The study also revealed a significant link between depression and increased risk of suicidal ideation in this group.
A small clinical trial has found that a growth factor known as IGF1 can help treat some symptoms of Rett syndrome, including improved mood, anxiety, and easier breathing. Researchers at Boston Children's Hospital led the trial, which showed no adverse side effects and provided some effectiveness in treating the disease.
Researchers at IDIBELL have discovered that combining effective drugs for Parkinson's disease reduces some Rett syndrome symptoms in mice. This finding offers a potential starting point for studying the effectiveness of similar treatments in humans.
Postural tachycardia syndrome (PoTS) affects young, well-educated women with severe symptoms like dizziness, fainting, and excessive fatigue. The syndrome is often misdiagnosed and inconsistently treated, leading to significant disability and impact on quality of life.
Researchers have developed a new, non-destructive method to detect white-nose syndrome in bats by using ultraviolet light. The technique, which involves shining long-wave UV light at bat wings, produces a distinctive orange-yellow fluorescence that corresponds with microscopic skin lesions characteristic of the disease.
People with exploding head syndrome typically hear abrupt noises like door slams or gunshots as they fall asleep. The episodes can be frightening and are often accompanied by anxiety and daytime sleepiness.
A Mayo Clinic-led study found nine independent risk factors for acute respiratory distress syndrome in surgical patients, including sepsis and high-risk cardiac surgery. The findings may lead to better identification of high-risk patients before surgery and inform changes in care to prevent the condition.
A team of Dana-Farber Cancer Institute investigators have uncovered a connection between Down syndrome and the development of acute lymphoblastic leukemia (ALL) during childhood. The study found that an extra copy of chromosome 21 leads to abnormal B cells that grow uncontrollably, increasing the risk of ALL.
Scientists at the University of Bristol have received funding to test a powerful new drug, NLX-101, which selectively targets serotonin receptors in the brain. The goal is to alleviate the distressing breathing abnormality associated with Rett syndrome, a condition affecting 1 in 10,000 female births worldwide.
A study published in Neurobiology of Aging has found a connection between the integrity of white matter connections in the brain and cognitive health in adults with Down syndrome. The research team identified biomarkers connected to dementia, including Alzheimer's disease, which could potentially lead to earlier intervention and retard...
Research suggests that patients with metabolic syndrome are more likely to experience complications after total joint replacement surgery. Obesity is a significant factor in postoperative complications, with risks increasing for those with a BMI of 30 kg/m2 or higher.
A Phase 1 clinical trial of mecasermin (rh-IGF-1) in girls with Rett syndrome demonstrated the treatment's safety and efficacy in ameliorating certain symptoms. The study suggests that IGF-1 could be a potential treatment for Rett Syndrome, paving the way for further research and possible FDA approval.
Researchers discovered that an RNA binding mechanism causes fragile X syndrome to occur when there are 200 or more CGG repeats in the gene. A drug that blocks this silencing mechanism can prevent fragile X syndrome, suggesting similar therapy is possible for other diseases.
A recent study published in Diabetologia found that metabolic risk factors cluster similarly in children and adults, increasing the risk of premature death caused by type 2 diabetes and cardiovascular diseases. Lifestyle interventions aiming at prevention should be invested in childhood to reduce the risk.
A panel of 35 genetically characterized DNA samples is now publicly available to help standardize Rett syndrome testing and improve diagnostic accuracy. The collection contains a wide variety of MECP2 mutations associated with most cases of the disorder.
Adolescents who ate poor breakfasts displayed a higher incidence of metabolic syndrome 27 years later. The study found that abdominal obesity and high levels of fasting blood glucose levels were the subcomponents linked to poor breakfast in youth.
Researchers at Yale University found that a combination of hydroxychloroquine may partially reverse the detrimental effects of antiphospholipid antibodies on human placental cell function, potentially benefiting pregnant women with lupus and/or antiphospholipid syndrome. This could lead to improved pregnancy outcomes for these patients.
The Nordic SYSDIET study found that people with metabolic syndrome often have a diet high in salt and saturated fat, low in fibre and unsaturated fat. This can increase the risk of cardiovascular diseases and diabetes, emphasizing the importance of adherence to dietary recommendations for those at risk.
Researchers at Karolinska Institutet have identified a new gene, GRHL3, responsible for the most common form of cleft lip and palate syndrome, Van der Woude syndrome. The study found that mutations in GRHL3 may be associated with an increased risk of clefts in non-syndromic cases.
Lynch syndrome increases the risk of colon and endometrial cancers. Screening all endometrial cancers for this genetic mutation can lead to early detection and improved patient outcomes for women at high risk.
The study aims to determine the prevalence of pediatric chronic fatigue syndrome in over 20,000 Chicago area youth ages 5 to 17. Chronic fatigue syndrome is an illness affecting close to 1 million Americans, causing significant impairment in physical functioning and daily activities.
New research suggests that 55% of bilateral adrenal Cushing's syndrome patients have genetic mutations predisposing to adrenal tumors. Genetic screening may help identify affected family members, potentially preventing disease progression and eliminating current treatment practices.
A genetic mutation in ADCK4 has been identified as a cause of steroid-resistant nephritic syndrome. Patients with this mutation show reduced CoQ1 levels and decreased mitochondrial respiration. Treatment with CoQ10 may improve outcomes for affected individuals.
A study found that residents of major US cities with high levels of air pollution are more likely to be diagnosed with dry eye syndrome. Environmental manipulations such as maintaining humidity and using air filters can help manage the condition.
A team of researchers identified the TBC1D20 gene as responsible for Warburg Micro syndrome, a rare genetic disorder characterized by severe physical and mental impairments. The study found that five distinct mutations in the gene cause the disease, with implications for understanding human development and related disorders.
A large population study found that being overweight or obese is a significant risk factor for heart disease, regardless of the presence of metabolic syndrome. The study suggests that achieving and maintaining a healthy weight is crucial in reducing the risk of cardiovascular disease.
Use of ACE inhibitors can cause a life-threatening allergic reaction in oral allergy syndrome sufferers, characterized by extreme facial swelling and difficulty breathing. Hay fever sufferers often mistake oral allergy symptoms for food allergies, but it's not a food allergy and can be treated with cooked foods.
Researchers studying chromosome 22q11.2 deletion syndrome aim to uncover genetic variation and identify biological pathways leading to schizophrenia in the broader population. The project may inform novel, more effective treatments for psychiatric disorders.
Scientists have redefined the MECP2 protein's role in Rett syndrome, discovering it acts as a global activator rather than repressor. This new understanding can lead to novel therapies for the disease, targeting the AKT/mTOR pathway to reverse symptoms.
A comprehensive review of medical literature reveals a link between PTSD and metabolic syndrome. The study suggests that the relationship is not clear and may be influenced by various factors such as socioeconomic status and lifestyle habits. Further investigation is needed to fully understand this connection.
A study by UC Davis MIND Institute found that none of the children with 22q11.2 deletion syndrome met strict diagnostic criteria for autism. Evaluations should be performed to assess autism and guide therapy selection based on symptoms such as language delay.