Diseases, Conditions, Syndromes

New recommendations ease challenges for Rett sufferers

The Telethon Institute for Child Health Research together with international collaborators have created a comprehensive approach to tackle feeding and growth problems in Rett Syndrome sufferers.

Medical research

Rett syndrome gene dysfunction redefined

Whitehead Institute researchers have redefined the function of a gene whose mutation causes Rett syndrome, a neurodevelopmental autism spectrum disorder. This new research offers an improved understanding of the defects found ...

Genetics

Deciphering the cellular reading system of DNA methylation

(Medical Xpress)—Scientists from the FMI identify how a family of proteins reads the methylation marks on the DNA so critical for cell development. These MBD proteins bind directly to methylation marks and inactivate the ...

Genetics

Mutation location is the key to prognosis

The three most important factors in real estate are location, location, location, and the same might be said for mutations in the gene MECP2, said researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological ...

Medical research

Brain and heart link may explain sudden death in Rett

Poets might scoff at the notion that heart and brain are closely related, but scientists led by those at Baylor College of Medicine (www.bcm.edu) say a genetic defect that affects the brain can stop a heart.

Diseases, Conditions, Syndromes

Developmental disease is recreated in an adult model

A new study published today in the journal Science has shown that the childhood disorder Rett syndrome, can be reestablished in adult animals by "switching off" a critical disease causing gene in healthy adult animals. The ...

Neuroscience

Rett protein MeCP2 needed for proper adult neuron function

The protein MeCP2 is porridge to the finicky neuron. Like Goldilocks, the neuron or brain cell needs the protein in just the right amount. Girls born with dysfunctional MeCP2 (methyl-CpG-binding protein 2) develop Rett syndrome, ...

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