Rett Syndrome News and Research

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Rett syndrome is a neurological and developmental disorder that mostly occurs in females. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. For instance, they stop talking even though they used to say certain words. They lose their ability to walk properly. They stop using their hands to do things and often develop stereotyped hand movements, such as wringing, clapping, or patting their hands. Rett syndrome is considered one of the autism spectrum disorders. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome.
New maps of chemical marks on DNA could help illuminate the causes of developmental disorders

New maps of chemical marks on DNA could help illuminate the causes of developmental disorders

RNA editing may repair the underlying cause of Rett Syndrome in mouse model

RNA editing may repair the underlying cause of Rett Syndrome in mouse model

MGH researchers identify key mechanism in X chromosome inactivation

MGH researchers identify key mechanism in X chromosome inactivation

Gene mutation linked to MEF2C haploinsufficiency syndrome

Gene mutation linked to MEF2C haploinsufficiency syndrome

Foxg1 gene works like a molecular knob to control neocortical activity

Foxg1 gene works like a molecular knob to control neocortical activity

Recognizing CDKL5 Deficiency Disorder

Recognizing CDKL5 Deficiency Disorder

Study reveals the neural basis of sensory hypersensitivity in people with autism

Study reveals the neural basis of sensory hypersensitivity in people with autism

Experimental drug offers hope for improving movement symptoms of Parkinson's

Experimental drug offers hope for improving movement symptoms of Parkinson's

Researchers examine abnormal neuron activity in Rett syndrome

Researchers examine abnormal neuron activity in Rett syndrome

Findings may lead to potential therapeutic strategies for rare neurodevelopmental disorder

Findings may lead to potential therapeutic strategies for rare neurodevelopmental disorder

Stroke drug improves stem cell therapy in rat spinal cord injury models

Stroke drug improves stem cell therapy in rat spinal cord injury models

Criticality is a hallmark of normally functioning brain networks, research shows

Criticality is a hallmark of normally functioning brain networks, research shows

$28 million grant supports Cincinnati Children's role as coordinating center for Rare Diseases Clinical Research Network

$28 million grant supports Cincinnati Children's role as coordinating center for Rare Diseases Clinical Research Network

Cure for Rett Syndrome a step closer as scientists successfully reactivate 'back-up’ genes

Cure for Rett Syndrome a step closer as scientists successfully reactivate 'back-up’ genes

Measuring pupil dilation and heart rate using AI could enable earlier diagnosis of autism

Measuring pupil dilation and heart rate using AI could enable earlier diagnosis of autism

Exosomes can restore health to brain cells affected by developmental disease

Exosomes can restore health to brain cells affected by developmental disease

Dietary supplement improves neuronal function of a patient with atypical Rett syndrome

Dietary supplement improves neuronal function of a patient with atypical Rett syndrome

Rettsyndrome.org funds research that will benefit boys and girls with MECP2-related disorders

Rettsyndrome.org funds research that will benefit boys and girls with MECP2-related disorders

Genetic mutations in brain development lead to discovery of rare genetic diseases

Genetic mutations in brain development lead to discovery of rare genetic diseases

Study reveals how one mutation causes the most common inherited intellectual disability

Study reveals how one mutation causes the most common inherited intellectual disability