Quantcast

Latest Rett syndrome Stories

2011-04-13 21:38:10

Model of Rett syndrome suggests a deficit in processing cues from the environment Rett syndrome, a neurodevelopmental disorder on the autism spectrum, is marked by relatively normal development in infancy followed by a loss of loss of cognitive, social and language skills starting at 12 to 18 months of age. It is increasingly seen as a disorder of synapses, the connections between neurons that together form brain circuits. What hasn't been clear is why children start out developing normally,...

2011-01-11 13:50:35

Since 1999, scientists have known that a mutation in a gene called MeCP2 (methyl-CpG-Binding protein 2) can cause Rett syndrome, a neurodevelopmental disorder. Because not all people with mutations in that gene have Rett, an international consortium of researchers, including physicians from Baylor College of Medicine, created a revised criteria for diagnosing the disease. The criteria by the RettSearch Consortium appear in the current edition of the Annals of Neurology. Consistent criteria...

2010-12-16 16:23:00

Study marks the emergence of disease-modifying treatments for autism spectrum disorders BOSTON, Dec. 16, 2010 /PRNewswire-USNewswire/ -- Researchers at Children's Hospital Boston have begun a randomized, placebo-controlled trial to test a potential drug treatment for Rett syndrome, the leading known genetic cause of autism in girls. The drug, mecasermin, a synthetic form of insulin-like growth factor-1 (IGF-1), is already FDA-approved for children with short stature due to IGF-1...

2010-11-17 21:18:03

With few exceptions, jumping genes-restless bits of DNA that can move freely about the genome-are forced to stay put. In patients with Rett syndrome, however, a mutation in the MeCP2 gene mobilizes so-called L1 retrotransposons in brain cells, reshuffling their genomes and possibly contributing to the symptoms of the disease when they find their way into active genes, report researchers at the Salk Institute for Biological Studies. Their findings, published in the November 18, 2010 issue of...

138f4dd87d9369b7f519a7afdf1332141
2010-11-16 10:46:25

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. The study, funded in part by IRSF, was led by Dr. Alysson Muotri at the University of California, San Diego--a leading researcher in the stem cell field. The article, titled 'A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem...

2010-11-14 00:14:17

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. That evening Rem was exposed for the first time to images of the heartbreaking devastation caused by Rett Syndrome, a childhood neurological disorder he had never heard of before. Moved by what he learned Rem decided to make a documentary centered around the families and the cutting-edge science. A...

2010-11-11 22:26:15

The brain works because 100 billion of its special nerve cells called neurons regulate trillions of connections that carry and process information. The behavior of each neuron is precisely determined by the proper function of many genes. In 1999, Baylor College of Medicine researcher Dr. Huda Zoghbi, and her colleagues identified mutations in one of these genes called MeCP2 as the culprit in a devastating neurological disorder called Rett syndrome. In new research in mice published in the...

2010-11-11 22:10:06

"The biggest surprise to me was that we could rescue the autistic phenotype [in the human cells] to something close to normal," said Alysson Muotri of the University of California San Diego. The researchers made the discovery by first transforming adult cells taken from patients with Rett Syndrome into induced pluripotent stem cells (iPS cells) using an established cocktail. iPS cells look and act very much like embryonic stem cells. Those stem cells were able to form functional neurons in...

2010-11-11 18:48:02

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. The November 11 issue of Nature reports that removing MECP2 from a small group of neurons that typically make the inhibitory neurotransmitter, GABA,...

53ad6fefff9ca5621fbe136401517c931
2010-11-11 14:50:00

Using induced pluripotent stem cells from patients with Rett syndrome, scientists at the University of California, San Diego School of Medicine 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. The research, led by Alysson R. Muotri, PhD, assistant professor of pediatrics, will be published in the November 12 issue of...


Word of the Day
snash
  • To talk saucily.
  • Insolent, opprobrious language; impertinent abuse.
This word is Scots in origin and probably imitative.