The research expertise and interests of the those affiliated with the Down Syndrome Research Center (DSRC) are in many different areas, and we are in many different departments at Stanford. What brings us together to interact and collaborate are overarching goals to understand how the triplication of genes on human chromosome 21 influences the biology and the health of individuals with Down syndrome (DS) and to develop means of mitigating those effects. Most of us working on the biological aspects of DS use mouse genetic models. These models are not perfect replicas of the conditions underlying DS because the mice generally do not have all of the homologous genes of human chromosome 21 triplicated, and after all they are mice, but they can produce insights into mechanisms and also give us the possibility of testing potential pharmacological interventions. Also, through breeding programs, we can produce DS model mice in which the copy number of a particular gene of interest is normalized possibly revealing its role in the DS condition.
An example of a gene copy normalization study was that of a gene that plays a role in controlling stem cell development. Stem cells have the potential of developing into lineages of different kinds of cells. Stem cells are important in development, including brain development. By normalizing the copy number of this one gene, we have seen many improvements in the mice such as increased numbers of neurons, improved learning and memory, improved gait and balance, and improved bone density. Each of these results involves different signaling pathways that offer potential points of pharmacological intervention.
An area of particular interest among Center members are brain mechanisms that support cognitive functions such as learning and memory. We study the performance of the DS model mice in learning and memory tasks at different stages of their lives. These model mice give us the opportunity to test whether or not specific pharmaceuticals can improve their cognitive functions. They also make it possible to take a neurophysiological approach to ask where in the memory processing pathways do problems arise, and how do therapeutics alter those mechanisms.
An end goal of all of the Center research is to bring new treatments to the clinic that will improve the lives of individuals with DS.
The interests of those affiliated with the Center go beyond the genetics and biology of DS. Some from the Graduate School of Education are concerned with ways and policies to improve our educational systems to benefit children with DS and other causes of learning difficulties. Some are concerned with ways of improving life skills and employment opportunities for young people with DS. We all appreciate opportunities to interact with families living with DS, answer questions, give advice when we can, and to foster inclusivity.