Articles tagged with Rett Syndrome
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CURE GABA-A and Grann Pharmaceuticals partner to advance mRNA lipid nanoparticle therapies for Rett Syndrome and other rare neurodevelopmental disorders caused by GABAAR variants. The partnership aims to accelerate clinical trials and deliver transformative therapies to families affected by these conditions.
Researchers at UC Davis Health developed a promising gene therapy that could treat Rett syndrome by reactivating healthy but silent genes responsible for this rare disorder. The therapy showed impressive results in female mouse models of Rett syndrome, with treated mice living longer and showing better movement and cognition.
Researchers at the Wyss Institute have identified vorinostat as a promising treatment for Rett Syndrome using an AI-driven drug discovery process and innovative disease modeling. The findings demonstrate disease-modifying abilities across multiple tissues, offering hope for a potentially curative treatment.
The drug QTX153 has shown significant promise in preclinical models of Rett syndrome, reversing symptoms such as motor control and neuronal function. The compound efficiently crosses the blood-brain barrier, demonstrating safety even at high doses.
Mutations in MeCP2 gene lead to depletion of NEAT1, a long non-coding RNA controlling autophagy. Restoring NEAT1 reverses cellular alterations in Rett syndrome models.
Researchers have identified molecular changes that occur long before symptoms appear, shedding light on the development of Rett syndrome. These findings hold promise for developing safe gene therapies and monitoring biomarkers to track MECP2 gene function.
A study at Baylor College of Medicine and Texas Children's Hospital reveals that loss of MeCP2 function in adulthood causes immediate progressive dysregulation of hundreds of genes, some activated while others suppressed. Gene expression changes occur well before measurable neurological function deficiencies.
A new study in mice shows a unique mRNA delivery method can successfully edit faulty genes in fetal brain cells. The technology has the potential to stop progression of genetic-based neurodevelopmental conditions like Angelman syndrome and Rett syndrome before birth.
Researchers found that female mouse models of Rett syndrome have a mosaic-like distribution of cells expressing wild-type and mutant MeCP2 protein, leading to dysregulated genes. The study also discovered an unusual disease progression, with females having more dysregulated genes at the pre-symptomatic stage than later on.
A team of scientists has shed light on how the protein MeCP2 interacts with DNA and chromatin, providing new avenues for Rett syndrome therapies. They discovered that MeCP2 dynamically moves on DNA but binds slower to methylated forms, recruiting other regulatory proteins more efficiently.
Researchers found that a cancer drug can restore phagocytosis, a process crucial for brain health, in individuals with Rett syndrome by targeting microglia. The study highlights the potential therapeutic target of microglia in neurological conditions and may lead to new treatments.
A multisite clinical trial will evaluate repurposed FDA-approved drugs as treatment options for patients with Rett syndrome, a rare genetic neurodevelopmental disorder affecting brain development. The study aims to find new therapies to improve the lives of individuals with Rett syndrome, potentially providing multiple treatment options.
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 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...
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.
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 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 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 at Fralin Biomedical Research Institute determine CASK gene disorder is caused by damage to neurons, not abnormal brain development. The finding has potential to inform treatment strategies for this rare genetic disease.
Researchers at UCLA developed brain organoids that mimic human brain structure and function, allowing for the study of neurological disorders like Rett syndrome. The organoids showed organized waves of activity similar to those found in living brains and responded to treatment with an experimental drug.
A study by Kyushu University researchers found that deficiencies in key genes lead to an imbalance in neural stem cells, resulting in fewer neurons and more astrocytes. This imbalance disrupts brain function and leads to Rett syndrome symptoms.
Researchers found that early intensive training improved motor and memory skills in a mouse model of Rett syndrome, delaying symptom onset. The study proposes newborn genetic testing followed by training to help girls retain milestones and improve quality of life.
A mouse study suggests that intense behavioral training before symptoms develop can delay the onset of Rett syndrome, a devastating neurological disorder. The training improved memory loss and motor control decline in mice with the genetic disorder.
Two regions of DNA required for proper MECP2 expression have been identified in mice and humans, which could lead to new treatments for Rett Syndrome and MECP2 Duplication Syndrome. These discoveries provide hope for future treatments targeting these DNA regions.
Scientists created brain organoids from patients with Rett syndrome to study the disease and identify potential treatments. The study found two drug candidates, Nefiracetam and PHA 543613, that restored calcium levels, neurotransmitter production, and electrical impulse activity in the organoids.
Researchers have made a groundbreaking genetic discovery that sheds light on the cause of rare nerve disorders, including Rett syndrome. The study found two new mutations in the KIF1A gene to be responsible for these conditions.
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.
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%.
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.
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 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.
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.
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.
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.
MeCP2 duplication syndrome, a rare genetic disorder affecting mainly boys, may benefit from new treatments by blocking key protein interactions. Researchers at the University of Edinburgh identified a crucial part of the protein binding to NCoR as responsible for disease symptoms, paving the way for therapies that target this interaction.
A mouse model was created to study Rett Syndrome, showing that low-level MECP2 expression extends lifespan and improves neuromotor function. Therapeutic potential for RTT patients was identified with 5-10% MECP2 restoration associated with improved outcomes.
Researchers created a female mouse model with limited MECP2 gene expression, extending lifespan and reducing symptoms. The study suggests that partial reactivation of the inactive X chromosome may be therapeutic for Rett syndrome.
A new drug has been found to reduce symptoms and activate dormant neurons in preclinical models of Rett syndrome, a genetic disorder causing intellectual disability. The treatment, SB216763, also shows promise in improving quality of life by lengthening lifespan and reducing tremors and breathing difficulties.
A recent study by Case Western Reserve University researchers has reversed symptoms of respiratory and cognitive abnormalities in a mouse model of Rett syndrome. The findings suggest that stimulating neurons in the medial prefrontal cortex could be therapeutic for Rett patients, potentially leading to improved breathing and cognitive f...
A Massachusetts General Hospital team developed a dual-modality approach to reactivate the inactive X chromosome, increasing MECP2 protein expression up to 30,000-fold. The treatment may provide meaningful treatment for patients with Rett syndrome and other X-linked disorders.
Neuren Pharmaceuticals will conduct a Phase 3 clinical trial for trofinetide, showing promise in treating Rett syndrome symptoms in children and adults. The trial aims to provide a treatment that addresses the underlying biology of the disease.
Researchers at Vanderbilt University Medical Center have developed a small molecule compound that works like the dimmer switch in an electrical circuit, relieving symptoms of Rett syndrome in mice. The study provides further evidence that a drug may be possible to treat this rare neurodevelopmental disorder in females.
Researchers found a small-molecule drug improves synaptic plasticity in the hippocampus and object location memory in Rett syndrome mice. The treatment also restored general locomotor activity to normal levels, offering hope for patients with neurodevelopmental disorders.
A new study suggests that the small molecule LM22A-4 can improve spatial memory and motor skill defects in Rett syndrome mice by enhancing synaptic plasticity in the hippocampus. The treatment also shows promise for improving breathing problems associated with the disease.
Rettsyndrome.org has funded six new research projects worth $775,000 to accelerate treatments and therapies for Rett syndrome. The projects focus on drug development and brain mechanisms underlying the disorder.
Researchers at the University of Edinburgh discovered molecular details of Rett syndrome and related intellectual disabilities by studying protein interactions. The study sheds light on how flaws in key proteins can prevent brain function, paving the way for new treatments.
A Phase 2 clinical trial of trofinetide in girls with Rett syndrome aged 5-15 showed statistically significant clinical benefits, including improvements in the Rett Syndrome Behavior Questionnaire and Clinical Global Impression of Improvement. The high dose of trofinetide was well-tolerated with no dose-limiting effects observed.
Researchers at Cold Spring Harbor Laboratory demonstrate how MECP2 mutations impair adult learning in female mice. They show that normal MECP2 gene expression is required for learning a natural behavior, and that impaired MECP2 expression causes a cascade of molecular failures leading to neural plasticity deficits.
Rettsyndrome.org has reached a milestone of $40 million in research funding for Rett syndrome treatments. The organization has funded over 40M in high-quality research grants and programs to date.
Scientists at SISSA have developed a method to stimulate genes to work twice as hard to compensate for missing genes, potentially treating diseases like Rett's syndrome by leveraging the gene's natural endogenous regulation
Rettsyndrome.org designates 14 US clinics as Clinical Research Centers of Excellence, fostering comprehensive care and partnering with families and healthcare providers. These centers accelerate research and treatment, providing critical support for individuals with Rett syndrome.
Two studies in mice reveal that rescuing MeCP2 activity in certain neurons can improve symptoms of Rett syndrome, with different types of neurons playing distinct roles. Researchers are now exploring drugs to improve inhibitory and excitatory neuron balance, offering new hope for potential therapies.
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.
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.
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.
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.