Quantcast

Latest MECP2 Stories

2011-11-03 07:00:00

Horizon Media, A2A Media, Garage Media Join Forces to Create Pro Bono PSA Trumbull, CT (PRWEB) November 03, 2011 The Rett Syndrome Research Trust is pleased to announce a campaign to boost awareness of Rett Syndrome in the most iconic of all advertising venues â“ Times Square in New York City. A newly created public service announcement will run an average of nine times an hour for three months starting November 1st on the colossal 6000 square foot Mediamesh display at...

2011-10-05 12:25:09

When cells divide normally, DNA gets copied perfectly and distributed among the daughter cells with an even hand. Occasionally though, DNA breaks during division and is rearranged, resulting in duplications or deletions of important parts of the blueprint. Now researchers at Baylor College of Medicine who study families with such genomic disorders have found a shared, yet unusual, architecture resulting from this jumble that is associated with very severe forms of disease. They also...

2011-10-03 15:45:04

When cells divide normally, DNA gets copied perfectly and distributed among the daughter cells with an even hand. Occasionally though, DNA breaks during division and is rearranged, resulting in duplications or deletions of important parts of the blueprint. Now researchers at Baylor College of Medicine who study families with such genomic disorders have found a shared, yet unusual, architecture resulting from this jumble that is associated with very severe forms of disease. They also...

2011-06-30 13:34:04

A paper published online today in Nature reveals that glia play a key role in preventing the progression of the most prominent Rett Syndrome symptoms displayed by mouse models of the disease: lethality, irregular breathing and apneas, hypoactivity and decreased dendritic complexity. The discovery, funded in part by the Rett Syndrome Research Trust (RSRT) was led by Gail Mandel, Ph.D., an investigator of the Howard Hughes Medical Institute at Oregon Health and Science University. Rett...

2011-06-15 08:00:00

NEW YORK, June 15, 2011 /PRNewswire/ -- Huda Y. Zoghbi, MD, will receive the 2011 Neuroscience Prize of The Peter and Patricia Gruber Foundation for her pioneering work in unlocking genetic and molecular mysteries behind a number of devastating neurological disorders, including Rett syndrome, spinocerebellar ataxia type 1, and brain tumors called medulloblastomas. Her contributions have also greatly advanced our scientific understanding of autism, Parkinson's disease, and Alzheimer's...

2011-06-07 10:15:42

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, a neurological disorder. Too much MeCP2 can cause spasticity or developmental delay with autism-like symptoms in boys. Now, researchers at Baylor College of Medicine and Texas Children's Hospital have found that the neuron needs a steady supply of this protein for its...

2011-06-03 12:57:26

An IRSF funded 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 gene was "switched off" in adult mice by use of a sophisticated genetic trick, resulting in the appearance of behaviors typically seen in Rett syndrome. The leading author Christopher McGraw, MD/PhD student, carried out the study in the laboratory of Dr. Huda...

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...


Word of the Day
drawcansir
  • A blustering, bullying fellow; a pot-valiant braggart; a bully.
This word is named for Draw-Can-Sir, a character in George Villiers' 17th century play The Rehearsal.
Related