Rare Disease UK – Prevention and Diagnosis Working Group

In June 2009 the European Council recommended that all EU Member States should produce and implement a national strategy for rare diseases by 2013. A rare disease is defined by the EU as one affecting less than 5 in 10,000 of the general population. Currently there are over 6000 recognized rare conditions, including Krabbes Disease. Rare diseases affect approximately 3.5 million families in the UK.

Despite these shocking statistics, the services offered to families affected by rare diseases across the UK are often poorly co-ordinated and unsatisfactory. Rare Disease UK, an initiative of Genetic Alliance UK, has brought together a number of working groups to aid the development of a national strategy on rare diseases, to identify issues that need to be addressed and to suggest good practices that government can incorporate within their work on rare disease planning for 2013.

Of course rare disease planning includes newborn screening. Save Babies Through Screening Foundation UK is a member of the Rare Disease UK Prevention and Diagnosis Working Group, adding their own expertise in terms of newborn screening issues and requirements for the future on newborn screening in the UK.

The Rare Disease UK report was issued for wide consultation in October 2010 and the final report is due to be published in February 2011.