Trisomy 21 occurs in about 1/750 live births and causes a constellation of phenotypes known as Down syndrome. Our goal is to understand the mechanisms by which genes in three copies on human chromosome 21 cause developmental abnormalities leading to specific Down syndrome traits. A number of tissues affected in Down syndrome, including facial, nervous system, heart, and digestive tract, are partially derived from a transient developmental precursor, the neural crest. Using mouse models of Down syndrome, our work provided the first experimental evidence that trisomy adversely affects neural crest cells. Our laboratory uses genetics, cell and molecular biology, developmental biology, and unbiased stereology to examine how trisomy affects development and the generation, migration, proliferation and survival of the neural crest in trisomic animals. The mechanisms by which trisomy alters normal neural crest development may suggest a common basis for other tissues affected by trisomy. Our long term goal is to apply the knowledge of how and when trisomic genes affect developmental processes to ameliorate or prevent Down syndrome phenotypes.
Department of Biology