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An EU-funded project has provided new hope for the 2 million people in Europe who suffer from rare kidney diseases thanks to groundbreaking research that has led to diagnostic tests and a new type of treatment.
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.
An EU-funded project is conducting groundbreaking research into a rare form of leukaemia, proving the effectiveness in patients of non-chemotherapy-based treatments that target the genetic cause of the disease.
Don't panic: severe soft tissue infections are extremely rare. But if you do develop one, you and your doctor need to act quickly. An EU-funded project is working on a powerful diagnostic tool that can help to spot these potentially fatal illnesses early. The team is also analysing patient records and samples from several countries to identify the best treatments.
Cockayne syndrome (CS) is a devastating, inborn, progressive neurodegenerative disorder with a very early onset in childhood. The EU-funded project CHROMOREPAIR helped shed light on underlying issues in CS and related disorders, which may ultimately open the way for novel diagnostic options and treatment targets.
People born with dwarfism (achondroplasia) can also have problems with the spine, breathing and hearing. An EU-funded project developed a protein that can potentially restore growth in those affected by the genetic mutation that leads to dwarfism.
Very few of us have heard of Alpha-Mannosidosis. However, this rare genetic disease has affected the lives of hundreds of families across Europe and the world. Its first symptoms appear in early childhood and include hearing loss, progressive facial and skeletal deformity, mental retardation, multiple organ abnormalities and recurrent infections, while, in its most aggressive form, it could lead to an early death.
DevelopAKUre is a European Union (EU)-funded research project which is working to establish a safe, reliable treatment for a rare and hitherto incurable disease. Caused by a genetic mutation, Alkaptonuria (AKU) leads to a severe and early-onset form of osteoarthritis and can also cause heart problems. 
