by PRISMS | Sep 23, 2023 | Research Study
The purpose of this study is to develop and validate a disease-specific, observer-reported outcome measure for clinical trials of patients with the following Neurodevelopmental Disorders (NDDs): SYNGAP1 and RAI1 deficiencies (such as SMS), and Fragile X Syndrome. The...
by PRISMS | May 28, 2020 | Research Study
Vanda’s SMS Patient Registry Severe sleep disturbances are nearly universal in patients with Smith-Magenis Syndrome (SMS) and they present major challenges for those individuals and their families. Trials are currently underway to investigate SMS related sleep...
by PRISMS | May 28, 2020 | Research Study
In the study of human genetic disorders, samples from patients and their families are a critical resource for researchers; however, it is often a major hurdle to identify families with specific chromosome abnormalities, like Smith-Magenis Syndrome. Thus many...
by PRISMS | May 28, 2020 | Research Study
Extraction of Neuronal Stem Cells from Dental Pulp for Human Neurogenetic Disease Studies Dr. Lawrence T. Reiter at the University of Tennessee Health Science Center in Memphis is conducting a research study to understand defects in nerve cells grown from the dental...
by PRISMS | May 28, 2020 | Research Study
NIH is working with PRISMS to develop syndrome specific growth curves for SMS. Data gathered to date on 68 children with SMS show the following growth patterns. Most infants with SMS are born at term and have normal birth parameters for length, weight and head...
by PRISMS | May 28, 2020 | Research Study
Smith-Magenis Syndrome is a genetic disorder most commonly caused by a deletion of chromosome 17p11.2, and less commonly by mutations in the RAI1 gene Ongoing projects in Dr. Sarah Elsea’s lab are focused on understanding the function of...
