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Latest Rett syndrome Stories

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2010-02-15 11:45:00

A new study reveals that a common underlying mechanism is shared by a group of previously unrelated disorders which all cause complex defects in brain development and function. Rett syndrome (RTT), Cornelia de Lange syndrome (CdLS) and Alpha-Thalassemia mental Retardation, X-linked syndrome (ATR-X) have each been linked with distinct abnormalities in chromatin, the spools of proteins and DNA that make up chromosomes and control how genetic information is read in a cell. Now, research,...

2009-12-08 17:57:55

Loss of the gene that causes Rett syndrome disrupts the production of neurotransmitters in specific nerve cells, causing the movement and behavioral problems typical of the disease, said a research team led by those at Baylor College of Medicine in a report online today in the Proceedings of the National Academy of Sciences. "Abnormalities in MeCP2 (methyl-CpG binding protein) lead to decreased production of enzymes that control production of the neurotransmitters dopamine, norepinephrine and...

2009-10-27 12:00:00

CINCINNATI, Oct. 27 /PRNewswire/ -- Inspired by recent breakthroughs in research, today the International Rett Syndrome Foundation (IRSF) announced a major fundraising initiative entitled Research to Reality: Funding Progress. Funds raised by the campaign are earmarked to accelerate the progress of crucial research, and bring promise to reality. Country music sensation Clint Black, whose niece Courtney lost her battle with Rett syndrome in 2003 at age 16, will serve as Honorary Chair of...

2009-07-30 08:00:00

ORLANDO, Fla., July 30 /PRNewswire/ -- The Angelman Syndrome Foundation today announced the formation of the Angelman Treatment and Research Institute (ATRI), which will direct the organization's rapidly increasing research funding. The ATRI will also serve as a hub for more than 30 organizations, researchers and scientists worldwide to share discoveries and treatments for this neuro-genetic disorder. The announcement of the ATRI was made during the Angelman Syndrome Foundation's biennial...

2009-04-20 09:58:52

A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome. The finding is published in the latest edition of the international journal Neurology. Dr Helen Leonard, who heads the Australian Rett Syndrome Study at the Telethon Institute for Child Health Research, said the finding was exciting in that it identifies a potential new target for treatment of the debilitating neurological disorder. "We know that...

2008-10-07 15:00:10

Could new findings about Rett syndrome lead the way in developing new techniques for unraveling other diseases that affect the brain? October is Rett Syndrome Awareness Month, and over 800 of the world's leading Rett Syndrome researchers, clinicians, organizations and families will meet at the Maison de la Mutualie, Paris October 10 -13 for the 6th World Rett Syndrome Congress hosted by Professor Philippe Evrard, who leads a research department in neurosciences in brain development and...

2008-08-29 18:00:16

Today's Vice Presidential nomination of Alaskan Governor Sarah Palin, mother of a child with Down syndrome, brings national attention to the approximately 350,000 individuals with Down syndrome living in the United States. The Down Syndrome Research and Treatment Foundation (DSRTF), a nonprofit organization in existence since 2004, is the leading private source of funding for Down syndrome cognitive research in the US. Groundbreaking research results made possible as a result of DSRTF...

2008-06-30 18:03:00

In a breakthrough scientific study published today in the Proceedings of the National Academy of Sciences, scientists at the Burnham Institute for Medical Research have shown that neural stem cell development may be linked to Autism. The study demonstrated that mice lacking the myocyte enhancer factor 2C (MEF2C) protein in neural stem cells had smaller brains, fewer nerve cells and showed behaviors similar to those seen in humans with a form of autism known as Rett Syndrome. This work...

2008-04-13 03:00:08

By Shah, Malay B Bittner, James G IV; Edwards, Michael A Rett Syndrome is associated with decreased peristaltic esophageal waves and gastric dysmotility, resulting in swallowing difficulties and gastric dilation. Rarely, gastric necrosis and perforation occur. Our case represents the third reported case of gastric necrosis and perforation associated with Rett Syndrome. A 31-year- old female after 11 hours of intermittent emesis and constant, sharp abdominal pain presented with evidence of...

2005-09-02 16:11:19

Adrian Bird of the University of Edinburgh and colleagues report today in the online issue of Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF). Rett Syndrome (RTT) is a severe neurological disorder diagnosed almost exclusively in girls....


Word of the Day
lambent
  • Licking.
  • Hence Running along or over a surface, as if in the act of licking; flowing over or along; lapping or bathing; softly bright; gleaming.
This word comes the Latin 'lambere,' to lick.
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