The Hedgehog family of secreted glycoproteins proteins plays multifari
ous roles during vertebrate embryogenesis. In both the Drosophila and
vertebrate embryo correct deployment of Hedgehog-like proteins is crit
ical for the generation of pattern in many tissues and organs. New evi
dence now reveals that genes involved in hedgehog signalling are mutat
ed in a number of common human genetic disorders, including skin cance
r and craniofacial defects. The understanding of how cells generate, r
eceive and transduce the Hedgehog signal during development has led to
the establishment of molecular paradigms for the pathogenesis of thes
e diseases. These studies clearly illustrate that knowledge of the nor
mal role of a gene during development is critical for generating an un
derstanding of the disease state in which it is mutated.