Latest MECP2 Stories
Study marks the emergence of disease-modifying treatments for autism spectrum disorders BOSTON, Dec.
With few exceptions, jumping genes-restless bits of DNA that can move freely about the genome-are forced to stay put.
A groundbreaking study published Friday in the leading scientific journal, Cell, revealed that a team of investigators had successfully generated nerve cells using skin cells from four individuals with Rett syndrome.
One year ago, filmmaker Jason Rem attended an elegant charity event in Los Angeles, at the home of Ann and Jim Gianopulos, held to raise funds for the work of the Rett Syndrome Research Trust.
The brain works because 100 billion of its special nerve cells called neurons regulate trillions of connections that carry and process information.
The laboratory of Huda Zoghbi, where the discovery that mutations in the gene MECP2 cause the severe childhood neurological disorder Rett Syndrome was made, has taken yet another step toward unraveling the complex epigenetic functions of this gene, implicated also in cases of autism, bipolar disease and childhood onset schizophrenia.
Using induced pluripotent stem cells from patients with Rett syndrome, scientists have created functional neurons that provide the first human cellular model for studying the development of autism spectrum disorder (ASD) and could be used as a tool for drug screening, diagnosis and personalized treatment.
In a study published today in the Journal, Proceedings of the National Academy of Sciences, an international team of researchers based in the U.S. and UK revealed that they were able to halt the potentially lethal, breath holding episodes associated with the neurological disease Rett syndrome.
Scientists have identified a protein that may bring light to the addictive impact of cocaine on the brain.
When a certain protein is mutated or missing, symptoms of the neurodevelopmental disorder Rett syndrome arise, causing a gradual loss of brain function during early development.