Grant: Operating Grant

We recently identified PTCHD1 as a gene involved in autism (Noor et al, 2010). However, to date, little is known about this gene, or its encoded protein. We have already learned through comparison with other proteins that it is similar to receptor proteins that recognize a class of signalling proteins called "Hedgehog", which are very important in neural development. Our preliminary studies show that PTCHD1 can function in a similar way to these "Hedgehog" receptor proteins, however there may be subtle differences between this and the known "Hedgehog" receptor proteins in the way that they function, or there may be other more unique roles for PTCHD1 that have yet to be discovered. We propose here a series of experiments that will further validate PTCHD1's role in autism and intellectual disability, and provide some clues as to how it functions in humans' cells. Understanding the role of this gene may help elucidate a common biological pathway for autism (and intellectual disability), which may allow us to find ways to develop specific therapeutic strategies for autism or intellectual disability.