By solving their first case, providing a confirmed diagnosis for a seven year old girl, Lily, the Government of Western Australia recently has successfully launched its Undiagnosed Diseases Program. This program, a first for Australia, has been established to find answers for children with long-standing, often very complex, disorders that are undiagnosed despite intensive efforts. Diseases in the Undiagnosed Disease Program are often rare diseases, and one child a month is expected to be given a place in the program.
The program has been modeled after other Undiagnosed Disease Program, such as the US program, that started in 2008 and has a roughly 25 percent discovery rate, and also discovered various new and rare genetic disorders. The program, directed by Dr Gareth Baynam, member of the Diagnostic Scientific Committee, is expected to draw on a coordinated international network of expert doctors and researchers.