Research Opportunity - Dr. Lyon
About Dr. Lyon and the Study
Gholson Lyon is a physician-scientist who earned an M.Phil. in Genetics at the University of Cambridge, England, then received a Ph.D. and M.D. through the combined Cornell/Sloan-Kettering/Rockefeller University training program.
Dr. Lyon co-founded the Utah Foundation for Biomedical Research (UFBR) in 2010, and he joined CSHL in 2012, where he continues to study the molecular basis of several rare diseases that he and his colleagues discovered in Utah and elsewhere.
Dr. Lyon current KBG syndrome study was funded partially through the KBG Foundation Seed Funding Program and has been enrolling KBG patients since 2022 and continues to this day. The study aims to
"conduct detailed functional assessment of at least 25 individuals with KBG syndrome, which will include the administration of a test (Vineland-3) to the parents or caregivers, allowing for quantitative analyses of overall functioning. The Vineland-3 Comprehensive Interview Form provides norm-referenced scores at three levels: subdomains, domains, and the overall Adaptive Behavior Composite (ABC). Adaptive behavior subdomains make up the most fine-grained score level. The primary norm-referenced scores for the subdomains are v-scale scores, which have a mean of 15 and standard deviation (SD) of 3. These results will then be analyzed with other variables, such as the presence or absence of seizures, along with the age of onset of those seizures, to determine if the trajectory of development and overall functioning is indeed impaired with seizure development.
The hypothesis is that the overall functioning of children with KBG syndrome is substantially impaired over time after seizures develop. We will also collect information from the Vineland-3 administration related to behavioral disturbances, so secondary analyses can focus on whether or not the presence of behavioral issues or attentional issues (such as attention deficit hyperactivity disorder) also have an impact on the overall functioning."
