If you look at the face and peer into the eyes of a person with Rett syndrome you can get a great sense for their character and personality. Conversely, it’s been said that a person with Rett syndrome can “see into your soul”. That is what makes this inspiring video so special.
The video was a gift for clinicians and researchers from those who took part in the IRSF Natural History Study in Chicago since 2006. The purpose of this study is to establish a phenotype-genotype correlation over a broad spectrum of Rett syndrome phenotypes including the longitudinal pattern of progression of clinical features, quality of life, and longevity across this cohort. For more information about this study click here.
The video is so good we had to share it with a broader audience. The views that photographers enjoyed during precious moments in time are truly spectacular! Kudos and thanks to those responsible for the photos and video.
The simple power of being connected is what makes the Rett syndrome community so special. In this new video, IRSF and Cure Rett capture the spirit of hope and mutual understanding that connects us all.
Click on the link below to see photos from Pope Francis’ meeting with members of the Rett syndrome community at the Vatican on November 27, 2013. The photographer captured very touching moments that will forever be a cherished part of Rett syndrome history!
This headline caught our eye today, particularly the part about the meeting being “truly emotional”. We would love to see photos or videos of this event! If you were involved with this meeting, please get in touch with us. We hope the news of this meeting further raises awareness of Rett syndrome among and even wider audience.
In September of 2011, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the International Rett Syndrome Foundation (IRSF) and the Rett Syndrome Research Trust (RSRT) convened a workshop involving a broad cross-section of basic scientists, clinicians and representatives from the National Institutes of Health (NIH), the US Food and Drug Administration (FDA), the pharmaceutical industry and private foundations to assess the state of the art in animal studies of Rett syndrome (RTT). The aim of the workshop was to identify crucial knowledge gaps and to suggest scientific priorities and best practices for the use of animal models in preclinical evaluation of potential new RTT therapeutics. This review summarizes outcomes from the workshop and extensive follow-up discussions among participants, and includes: (1) a comprehensive summary of the physiological and behavioral phenotypes of RTT mouse models to date, and areas in which further phenotypic analyses are required to enhance the utility of these models for translational studies; (2) discussion of the impact of genetic differences among mouse models, and methodological differences among laboratories, on the expression and analysis, respectively, of phenotypic traits; and (3) definitions of the standards that the community of RTT researchers can implement for rigorous preclinical study design and transparent reporting to ensure that decisions to initiate costly clinical trials are grounded in reliable preclinical data.