Patient advancing research
Read the compelling stories of rare disease patients who have contributed to rare disease research
1. Jennifer Trust for Spinal Muscular Atrophy , UK
Help for today – hope for tomorrow
The Jennifer Trust for Spinal Muscular Atrophy is a hands-on organisation. It supports families, promotes awareness of this rare disease and funds cutting-edge research in Spinal Muscular Atrophy. Help for today and hope for tomorrow: that’s their motto.
2. Sanfilippo Alliance, France
A catalyst in research on rare diseases
Alliance Sanfilippo is the first international organisation exclusively dedicated to Sanfilippo syndrome. It places high hopes on research and wants to accelerate the pace of biomedical research in the disease. It has been very active since its creation at the end of 2005 and is starting to have an impact on the community
3. TREAT-NMD, Europe
Accelerating treatments for neuromuscular diseases
The TREAT-NMD initiative aims at improving treatment and finding cures for patients affected by neuromuscular diseases. The network was launched in January 2007, and patients are hoping it will help develop treatments faster.
4. Debra International
Bridging Patients and Research
How can patients help advance research into their disease? One answer comes from a young woman suffering from EB (Epidermolysis Bullosa), who recently accepted to be among the first people to try a new skin-cell therapy that has the potential to greatly improve EB patients’ quality of life. Read on to find out how Melissa Smith, and the patient organisation to which she belongs, is helping to translate painstaking research into treatment.
5. The Nikolas Symposium, Greece
Held each year since 1989 in Greece, the Nikolas symposium is a “think tank” associating parents, patients, doctors, researchers who all together have just one goal: finding a cure to hystiocytocis, a very rare disorder. Since its inception, research has made huge progress but it all started with two parents discovering that their son suffers from a rare disease.
6. Fighting Blindness , Ireland
Bike riding in Australia to raise funds for research
Over forty people, some of them visually impaired, have recently completed a 700 kilometre bike ride across South-Eastern Australia. The challenge was organised by Fighting Blindness, an Irish charity, and Paralympics Cycling Ireland, to raise funds for research into rare and very rare eye conditions.