A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.

A paper published online today in Nature Neuroscience reveals the presence of methyl CpG binding protein 2 (MeCP2) in glia. MeCP2 is a protein associated with a variety of neurological disorders, including Rett Syndrome, the most physically disabling of the autism spectrum disorders.

The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.

Researchers at Wake Forest University Baptist Medical Center have found that the reflux and swallowing problems that are common symptoms in patients with Rett syndrome and other neurological impairments, may be caused by a different mechanism than they are in healthy individuals.

Australian scientists have shown that mental and physical exercise can improve coordination and movement problems in Rett syndrome, a devastating genetic brain development disorder that primarily affects females.

A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic disorder that causes autistic behavior and other disabling symptoms.

In 1999, when Dr. Huda Zoghbi and her Baylor College of Medicine colleagues identified a mutation of the gene MeCP2 as the culprit in Rett syndrome, a neurodevelopmental disorder, the discovery was only the prelude to understanding a symphony of neurological missteps.

The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome will enable affected families to receive a more accurate indication of their child’s prognosis.