Understanding Human Developmental Disorders

Developmental disorders (DD) are significant clinical problems that result from perturbation of embryogenesis or early brain development.  An understanding of DD, which is critical for adequate diagnosis, prognosis and management, requires both knowledge of the genes involved and how the gene products function as effectors of the specific developmental process.

We use new genetic technologies to identify new loci for DD. Knowledge of all highly penetrant loci - each with a distinct role in the perturbed developmental processes - should enable testable hypotheses to be generated regarding pathways or networks function of these gene products in normal development.