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Note: This post may be easier to understand if you read this one first. In the summer, RSRT published an announcement entitled “Statins Suppress Rett Symptoms in Mice“. You know me, always here to help break these things down in plain English. I know that title looks pretty bold and exciting. And it is! But possibly...
In October at the European Rett Syndrome Conference, one presenter showed a very interesting study which tracked the eyes of typical children, children with rett and those with autism (ASD). The differences in what they were looking at on the same image were striking. The autistic children looked at the corners of the image and...
by Elizabeth Halford, with contributions from Steve Kaminsky, Ph.D. Janice Ascano, Ph.D., Paige Nues and Kori Coates. There are three streams of scientific research into Rett syndrome: discovery based research, treatment (“translational”) based research and clinical research. IRSF have an ongoing study into Rett syndrome via their Natural History Study which is a fantastic form of clinical research. We’d...
It’s not likely something you’re losing sleep over, but at times you may see MECP2 sometimes written differently. Wanna know why? When it’s written MECP2 (all caps), it refers to the human gene When it’s written Mecp2 (only the first letter capitalized) it refers to the mouse gene When it’s written as MeCP2, it refers...
by Elizabeth Halford, with contributions from Steve Kaminsky, Ph.D., Janice Ascano, Ph.D., Paige Nues, Monica Coenraads and Kori Coates. As of late, there’s been much buzz about gene therapy as a potential treatment for Rett syndrome. And for good reason! Gene therapy isn’t new. In fact, it’s been used to treat a number of disorders, among them: retinal disease, acute...
It’s estimated that 50% of girls and women with Rett syndrome can walk. This leaves the other 50% using wheelchairs and other mobility aids like hoists, standing frames and sitting solutions. People generally take walking for granted. There are so many functions in our bodies that are aided by our ability to be upright. Scoliosis...