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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. 
ENRAH-SME was a pioneering European Union (EU)-funded project which laid the crucial groundwork for a major breakthrough in the understanding and potential treatment of a rare childhood neurological disease.
A Franco-British team of researchers has discovered a mysterious gene responsible for the extremely rare congenital Grey Platelet Syndrome that causes a bleeding disease. Only 50 cases have been reported to date. The team hopes that the results of their study will lead to the development of a DNA (deoxyribonucleic acid) test able to diagnose the disease. The findings are published in the journal Nature Genetics.
Earlier diagnosis of Alzheimer's disease is one step closer thanks to a team of EU-funded researchers that has developed novel approaches for measuring biomarkers for diagnostics, and a sophisticated system for integrating the information analytically. The system, which offers researchers an objective method for measuring the patient's state, is an outcome of the PREDICTAD ('From patient data to personalised healthcare in Alzheimer's disease') project, which is backed with EUR 2.89 million under the 'Information and communication technologies' (ICT) Theme of the Seventh Framework Programme (FP7).
A new multilingual website will provide extensive information for people suffering from a devastating type of motor neurone disease called ALS (Amyotrophic Lateral Sclerosis), which kills most sufferers within three to five years of diagnosis. The new online resource is part of the EU-funded project MitoTarget, which is investigating the underlying causes of ALS. The team hope that the website will be the first port of call for anyone wishing to learn or share information about ALS, including doctors, nurses, patients and members of the public. MitoTarget received EUR 6 million under the Health Theme of the EU's Seventh Framework Programme (FP7).
