One of the most difficult situations facing a rare disease patients is the 'long road' to diagnosis. On average it takes 4.8 years for a patient to get a definitive diagnosis for their rare disease and will see just over 7 doctors in this time. This delay in diagnosis in turn affects the time taken to start treatment which can lead to irreversible progression of the disease. As doctors are over-worked they are more likely to look for a more common reason for the symptoms than to look for a rare disease. 

To aid doctors and patients in this Shire, Microsoft and Rare Diseases Europe have decided to collaborate. They look to bring together the leading minds in diagnostic technology to create convenient, easy to use solutions to provide accurate and timely diagnosis. Shire are seeing this collaboration as a method to put into action their 'Diagnosis doesn't have to be rare' plan to implement the following 4 commitments

- Help in raising awareness (including diagnosis challenges)

- Supporting local diagnostic testing in developing countries and providing education on genetic testing

- Evaluating different screening methodologies to support early detection or rare conditions

- Establish registries of rare disease patients to provide a better understanding of rare diseases

To see whether this collaboration will be successful in bring leading diagnostic tools to rare diseases it will be necessary to follow this group as they put forward their mission statement and plan for success.