Latest Rett syndrome Stories
The Rett Syndrome Research Trust (RSRT) affirmed its mission to drive innovative science by awarding $4.2 million in 2012. This amount represents the largest research commitment in a given year ever allocated by a Rett organization. The awards were made possible by the fundraising efforts of highly motivated families and supporters of children and adults with Rett Syndrome in the US, and through our global partnership with Rett Syndrome Research Trust UK and Rett Syndrome Research &...
Recessive mutations in Middle Eastern families shed light on some U.S. cases BOSTON, Jan. 23, 2013 /PRNewswire-USNewswire/ -- While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. Researchers at Boston Children's Hospital have pinpointed several inherited mutations--among the first to be identified--through an...
HOUSTON, June 18, 2012 /PRNewswire-USNewswire/ -- Baylor College of Medicine and Texas Children's Hospital doctors are taking part in the upcoming 2012 World Rett Syndrome Congress in New Orleans. Dr. Huda Zoghbi, professor of neuroscience, pediatrics, molecular and human genetics, and neurology at Baylor College of Medicine and director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children's Hospital, will co-chair the Family Education Conference and the...
New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental disorder. Published online Thursday June 7, 2012 in the journal Neuron, researchers led by Benjamin D. Philpot, PhD, professor of cell and molecular physiology at UNC, describe how seizures in individuals with AS could be linked to an imbalance in the activity of specific...
HOUSTON, June 7, 2012 /PRNewswire-USNewswire/ -- The Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital (NRI), one of the world's first basic research institutes dedicated to childhood neurological diseases, recently joined with Genentech, Inc. and the journal Science Translational Medicine, to stage an international symposium on disorders of synaptic dysfunction - a growing class of neurological disorders including autism. Leaders from around the world in...
Scientists at the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that mice that lack a gene called Snf2l have brains that are 35 per cent larger than normal. The research, led by Dr. David Picketts and published in the prestigious journal Developmental Cell, could lead to new approaches to stimulate brain regeneration and may provide important insight into developmental disorders such as autism and Rett syndrome. Dr. Picketts and his team...
Results emphasize immune component of autism spectrum disorder A paper published online today in Nature describes the results of using bone marrow transplant (BMT) to replace faulty immune system cells in models of Rett Syndrome. The procedure arrested many severe symptoms of the childhood disorder, including abnormal breathing and movement, and significantly extended the lifespan of Rett mouse models. Exploring the function of microglia deficient in methyl-CpG binding protein 2 (Mecp2),...
Results Emphasize Immune Component of Autism Spectrum Disorder TRUMBULL, Conn., March 19, 2012 /PRNewswire-USNewswire/ -- A paper published online in Nature describes the results of using bone marrow transplant (BMT) to replace faulty immune system cells in models of Rett Syndrome. The procedure arrested many severe symptoms of the childhood disorder, including abnormal breathing and movement, and significantly extended the lifespan of Rett mouse models. Exploring the function of...
Researchers presenting talks at the Genetics Society of America's 53rd Annual Drosophila Research Conference in Chicago present new information on topics from neural diseases to kidney stones More than two-thirds of human genes have counterparts in the well-studied fruit fly, Drosophila melanogaster, so although it may seem that humans don't have much in common with flies, the correspondence of our genetic instructions is astonishing. In fact, there are hundreds of inherited diseases in...
Study highlights the interaction between epigenetics and genetics and exposure to a flame retardant in mice Mice genetically engineered to be susceptible to autism-like behaviors that were exposed to a common flame retardant were less fertile and their offspring were smaller, less sociable and demonstrated marked deficits in learning and long-term memory when compared with the offspring of normal unexposed mice, a study by researchers at UC Davis has found. The researchers said the study...
