Rett syndrome is a devastating developmental disorder, principally occurring in girls, caused by mutations in the gene MECP2 that leads to severe cognitive, motor and other symptoms. That's why the March 12 approval by the ...
Mar 13, 2023
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Over the last decade there has been a surge in the use of both medical-grade and consumer-grade wearable devices that measure an individual's physiology. The ability to monitor our own activities and health is more accessible ...
Mar 2, 2023
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Rett syndrome is a rare, progressive neurodevelopmental disorder that typically affects girls, causing severe intellectual disability, loss of motor skills, and autism-like symptoms, and there is currently no cure. Rett syndrome ...
Jan 20, 2023
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In Rett syndrome, a genetic condition affecting girls almost exclusively, mutations in the MECP2 gene cause a regression of language and motor skills starting at 12- to 18-months of age. Children then usually stabilize, but ...
Aug 8, 2022
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Using an innovative microscopy method, scientists at The Picower Institute for Learning and Memory at MIT observed how newborn neurons struggle to reach their proper places in advanced human brain tissue models of Rett syndrome, ...
Jul 29, 2022
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Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy, characterized by progressive muscle wasting and weakness and caused by abnormally repetitive DNA segments that are transcribed into toxic molecules ...
Jun 29, 2022
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Infantile spasm (IS) is a severe epileptic syndrome of infancy and accounts for 50% of all epilepsy cases that occur in babies during the first year of life. Current treatment options for this disorder are limited and most ...
May 20, 2022
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Medical researchers led by Kyushu University have revealed a possible underlying genetic pathway behind the neurological dysfunction of Rett syndrome. The team found that deficiencies in key genes involved in the pathology ...
Jul 2, 2021
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New scientific findings bring hope that early training during the presymptomatic phase could help individuals with Rett syndrome, a neurodevelopmental disorder, retain specific motor and memory skills and delay the onset ...
Mar 24, 2021
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Researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital (NRI) have identified and characterized two regions of DNA required for the proper expression ...
Mar 19, 2021
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