Graduate Studies Faculty
Cheryl L. Maslen, PhD
Programs:Molecular & Medical Genetics
Program in Molecular & Cellular Biosciences
Public Health and Preventative Medicine
Research Interests:Genetics; Heart defects; Down syndrome; Mechanisms of disease
Preceptor RotationsDr. Maslen has not indicated availability for preceptor rotations at this time.
Faculty MentorshipDr. Maslen has not indicated availability as a mentor at this time.
Our long-term goal is to address the genetic basis of the many serious clinical complications faced by individuals with Down syndrome, with a focus on developing strategies and therapies that will improve their lives. Nearly one in 600 children is born with Down syndrome, yet we know little about the actual mechanisms underlying the myriad of clinical problems faced by these individuals. One of the most important problems they face is the cognitive dysfunction that results in mental retardation. While all individuals with Down syndrome have some degree of cognitive dysfunction, little is known about what factors influence the degree of dysfunction, why the range of dysfunction is so highly variable, or even what areas of the brain are impacted. To begin to address these important questions, we are doing a pilot study on the cognitive abilities in Down syndrome as the foundation for a new project on the genetic basis of cognitive variability in this disorder. The purpose of this study is to provide such a neuropsychological profile and to develop a testing battery that will allow distinguishing between low and high functioning children with Down syndrome. We are currently developing the testing battery and determining the feasibility of administering this battery at multiple sites. The overall goal of the multi-site study is to determine how these neuropsychological features correlate with genetic differences in a large scale study. This will eventually lead to the development of more effective intervention programs for this underserved and vulnerable population.