Randall J. Roper, Ph.D.
Professor of Genetics
Department of Biology
Professor of Genetics
Department of Biology
Our research seeks to understand the genetic and developmental bases of cognitive and skeletal phenotypes related to Trisomy 21 or Down syndrome. Our laboratory uses mouse models of Down syndrome to quantify expression levels of triplicated genes during development and how changes in gene expression lead to traits associated with Down syndrome. We are testing the hypothesis that three copies of DYRK1A, a gene in triplicated in humans with Down syndrome and most mouse models of Down syndrome, causes developmental changes that are manifest in bone and brain deficits linked to Trisomy 21. Our research group is also investigating whether DYRK1A inhibitors may improve skeletal and neurobehavioral deficits connected to Down syndrome.
Work from our laboratory provided the first experimental evidence that trisomy adversely affects neural crest cells, precursors to the craniofacial skeleton. We have also quantified long bone (appendicular skeleton) in mouse models and identified a sexual dimorphism that reflects what is seen in humans with Down syndrome. In collaboration with the Down Syndrome Clinic at Riley Hospital, we have defined the co-occurrence and variability of debilitating traits in infants with Down syndrome.
Through our preclinical, genetic, and phenotypic studies, we will better define how three copies of genes on human chromosome 21 cause traits associated with Trisomy 21 as well as understand how genetic variability affects the severity of Down syndrome traits. Though our research, we seek to mentor and train the next generation of outstanding scientists in hypothesis-based research. Our long-term goal is to apply the knowledge of how and when triplicated genes affect developmental processes to ameliorate Trisomy 21 phenotypes and improve the lives of individuals with Down syndrome.