Rett Syndrome Research Trust Awards $9 Million to Accelerate...

Today the Rett Syndrome Research Trust (RSRT) announced research awards totaling nearly $9 million in 2015. This is the most research ever awarded in a given year by any Rett Syndrome organization.(PRWeb March 10, 2016)Read the full story at http://www.prweb.com/releases/2016/03/prweb13254722.htm
Source: PRWeb: Medical Pharmaceuticals - Category: Pharmaceuticals Source Type: news

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AbstractDeficits in arginine vasopressin (AVP) and oxytocin (OT), two neuropeptides closely implicated in the modulation of social behaviours, have been reported in some early developmental disorders and autism spectrum disorders. Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene are associated to Rett syndrome and other neuropsychiatric conditions. Thus, we first analysed AVP and OT expression in the brain ofMecp2-mutant mice by immunohistochemistry. Our results revealed no significant differences in these systems in young adultMecp2-heterozygous females, as compared to WT littermates. By contrast, we fo...
Source: Anatomy and Embryology - Category: Anatomy Source Type: research
AON-platform with focus on therapies nearing phase I trials for forms of Spinocerebellar Ataxia and Huntington Disease Other early discovery stage RNA editing platform focuses on RETT syndrome Funding led by LSP, co-led by Kurma Partners, supported b... Biopharmaceuticals, Neurology, Venture Capital Vico Therapeutics, RNA modulating therapies
Source: HSMN NewsFeed - Category: Pharmaceuticals Source Type: news
(Salk Institute) In research that aims to illuminate the causes of human developmental disorders, Salk scientists have generated 168 new maps of chemical marks on strands of DNA -- called methylation -- in developing mice. The data can help narrow down regions of the human genome that play roles in diseases such as schizophrenia and Rett Syndrome.
Source: EurekAlert! - Biology - Category: Biology Source Type: news
Abstract Difficulties with communication have a profound impact on the lives of individuals with Rett syndrome and their caregivers. Globally, many families report difficulty accessing appropriate and timely information and services from professionals with expertise in augmentative and alternative communication (AAC) as it pertains to Rett syndrome. To address this need, international consensus-based guidelines for managing the communication of individuals with Rett syndrome were developed by combining available evidence and lived experience with expert opinion. A two-phase Delphi survey was built on statements an...
Source: Augmentative and Alternative Communication - Category: Speech-Language Pathology Authors: Tags: Augment Altern Commun Source Type: research
Publication date: August 2020Source: The Lancet Neurology, Volume 19, Issue 8Author(s): Jan Egebjerg, Richard G M Morris
Source: The Lancet Neurology - Category: Neurology Source Type: research
Publication date: August 2020Source: The Lancet Neurology, Volume 19, Issue 8Author(s): Alexander J Sandweiss, Vicky L Brandt, Huda Y Zoghbi
Source: The Lancet Neurology - Category: Neurology Source Type: research
To investigate walking ability in Japanese patients with Rett syndrome (RTT).
Source: Brain and Development - Category: Neurology Authors: Tags: Original article Source Type: research
Publication date: Available online 15 July 2020Source: International Journal of Surgery Case ReportsAuthor(s): Carla M. Lopez, Mark L. Kovler, Eric B. Jelin
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
Introduction: Variants of CACNA1G, which encodes CaV3.1, have been reported to be associated with various neurological disorders.Methods: Whole-exome sequencing of genomic DNA from 348 Japanese patients with neurodevelopmental disorders and their parents was conducted, and de novo variants of CACNA1G were extracted. The electrophysiological properties of each mutant channel were investigated by voltage-clamp and current-clamp analyses of HEK293T cells overexpressing these channels.Results: Two patients diagnosed with Rett syndrome and West syndrome were found to have known pathological CACNA1G mutations reported in cerebel...
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Source Type: research
(Rett Syndrome Research Trust) A genomic error that causes Rett Syndrome, a serious lifelong neurological disorder, can be corrected in the brains of mice by rewriting the genetic instructions carried by the RNA.The new research, published July 14 in the journal Cell Reports, shows that RNA editing may repair the underlying cause of Rett Syndrome in a mouse model. The technology recoded enough RNA to restore half of the normal protein in three different kinds of neurons in the Rett mouse.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
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