ORAL-FACIAL-DIGITAL TYPE I SYNDROME AS A MODEL TO STUDY CILIARY FUNCTION

Oral-Facial-Digital Syndrome (OFD) is an umbrella term for several apparently distinctive genetic modifications. Individuals with OFD are born with malformed faces, hands and feet and differing degrees of mental retardation. The most common form is OFD1, a potentially life-threatening disorder where patients also have cysts in the kidney, often leading to kidney failure, requiring dialysis and transplantation. OFD1 affects only females because affected males are miscarried. Our research group recently discovered the gene responsible for OFD1 and the aim of this project is to investigate the function of the gene. We want to understand the reason why these malformations do occur when the gene is defective. This should improve our understanding of the development of these malformations and kidney disease and also offer the basis for one of the major challenge for future research, which is to prevent or cure developmental defects.