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.
Overnight EEG studies may help inform care for girls with Rett syndrome

Overnight EEG studies may help inform care for girls with Rett syndrome

Innovative microscopy method reveals how neurons struggle to reach their destination in Rett syndrome models

Innovative microscopy method reveals how neurons struggle to reach their destination in Rett syndrome models

IRSF’s clinical trial committee launched to support pharmaceutical companies developing Rett syndrome treatments

IRSF’s clinical trial committee launched to support pharmaceutical companies developing Rett syndrome treatments

Pioneering study could transform the treatment landscape for babies with infantile spasms

Pioneering study could transform the treatment landscape for babies with infantile spasms

Surprising discovery about genetic form of microcephaly has potential to inform treatment strategies

Surprising discovery about genetic form of microcephaly has potential to inform treatment strategies

Researchers develop brain organoids that show neural activity similar to living human brains

Researchers develop brain organoids that show neural activity similar to living human brains

Graduate student receives NIH grant to study specific molecule’s role in healthy neurodevelopment

Graduate student receives NIH grant to study specific molecule’s role in healthy neurodevelopment

Researchers reveal underlying genetic pathway behind neurological dysfunction of Rett syndrome

Researchers reveal underlying genetic pathway behind neurological dysfunction of Rett syndrome

Cerebral organoids provide new insight into role of key enzyme in natural brain development

Cerebral organoids provide new insight into role of key enzyme in natural brain development

Researchers characterize regions of DNA that impact MECP2 expression

Researchers characterize regions of DNA that impact MECP2 expression

UVA researcher developing innovative gene therapy to help children with Rett syndrome

UVA researcher developing innovative gene therapy to help children with Rett syndrome

MGH researchers uncover new clues about X chromosome inactivation

MGH researchers uncover new clues about X chromosome inactivation

New evidence supports the use of antisense oligonucleotides as feasible therapeutic strategy for MDS

New evidence supports the use of antisense oligonucleotides as feasible therapeutic strategy for MDS

New taxonomic classification of non-skeletal rare congenital disorders with impact on bone physiology

New taxonomic classification of non-skeletal rare congenital disorders with impact on bone physiology

Scientists identify two drug candidates that counteract deficiencies caused by lack of MECP2 gene

Scientists identify two drug candidates that counteract deficiencies caused by lack of MECP2 gene

Breakthrough genetic discovery into the cause of severe neurological conditions

Breakthrough genetic discovery into the cause of severe neurological conditions

Oxytocinergic and vasopressinergic substances in the brain are involved in guiding social behavior

Oxytocinergic and vasopressinergic substances in the brain are involved in guiding social behavior

AAV gene therapy often leads to dorsal root ganglion pathology, show studies

AAV gene therapy often leads to dorsal root ganglion pathology, show studies

Researchers identify shared molecular roots between lipid dysfunction and autism

Researchers identify shared molecular roots between lipid dysfunction and autism

Researchers solve a long-held mystery of X chromosome inactivation

Researchers solve a long-held mystery of X chromosome inactivation