Analysis of a role for Hippi / IFT57 in regulation of embryonic laterality and sonic hedgehog signalling

Research has shown that defects in cilia, small hair-like structures on the outside of cells, are the cause of many disorders including infertility, blindness, deafness, kidney defects and breathing difficulties. It has been shown that some of these defects arise when there are mutations in components of these cilia known as ""Intraflagellar Transport proteins"" (IFTs). These faults may render the cilia immobile, shorter than normal, or even completely absent and can lead to alterations in the normal layout of adult organs such as the heart, liver, and lungs. There are an increasing number of diseases linked with the IFT family of genes. Dr. Robin Dickinson is studying the role of one of them, known as Hippi / IFT57. Robin is investigating what these genes do when active, and examining the effects of their loss. Robin hopes that research into their function will lead to development of therapies for diseases caused by defects in cilia.