By pooling patient data and applying state-of-the art genetic methods, EU-funded research is improving the diagnosis of rare diseases that affect the lives of tens of millions of EU citizens.
Most rare diseases are linked to specificities of the patients' genes - but what these are, exactly, remains to be determined for the vast majority of these illnesses. Tackling this challenge, an EU-funded platform is helping to generate answers from as few as two known cases by enabling scientists to pool and compare genomic and clinical data.
EU-funded scientists have conducted groundbreaking research into brain cells that control memory formation and recollection, offering the promise of novel treatments for a potentially fatal disease that has a particularly devastating impact on the lives of children and young adults.
An EU-funded project has trained a new generation of researchers in mitochondrial disease - a range of rare disorders emerging as a new field of medical interest. The research, which included the discovery of novel genes associated with the disease, is feeding into the search for better diagnosis and treatment for the disorder.
