One in 17 people will be affected by a rare disease at some point in their lives, amounting to around 3.5 million people in the UK.
However, the lack of scientific knowledge and quality information on rare diseases often results in a delay in diagnosis and limited treatment options.
The new UK Rare Disease Research Platform is set to bring together expertise from across the UK rare disease research system to foster new and innovative treatments for those directly and indirectly impacted by rare conditions.
Professor John Iredale, MRC executive chair, said: "Although these diseases are diverse and have different causes, they often bring common challenges for research into disease mechanisms, diagnosis, management and treatment.
"The platform will bring people together, link participants to resources and activities in the UK and internationally, and support projects that deliver advances in rare disease research.”
The platform is made up of a central administrative hub and 11 specialist nodes based at universities across the UK. This includes the mTOR Pathway Diseases node, led by researchers at King’s College London, that will seek to transform the understanding and treatment of 14 rare diseases that share hyperactivation of the mTOR pathway as a common underlying molecular mechanism. Professor Lucy Chappell, chief executive of the NIHR, said: “The UK Rare Disease Platform marks a significant advance in accelerating rare disease research, supported through NIHR funding and our partners, the MRC.
"The platform will enable greater collaboration between patients and those working across academic, clinical and industry research. By bringing the right people and expertise together, we will be able to provide better care more quickly to those living with rare diseases.”