Research in rare diseases needs a boost
After a week of campaign with activities of scientific dissemination and inclusive leisure, today 15th, World Day of Neuromuscular Diseases, the 24 families in Spain affected by congenital muscular dystrophy due to merosin deficiency we launched the video: “Your impulse makes us fly.”
We have made the video with the dreams of boys and girls who suffer from the disease: we see Mikele in a rocket, Júlia among elephants, Daniel on top of a fire engine, Carlos acting as a cook or Paula driving… Dreams made out of photo collage following the initiative of the international artist Eugenia Loli, to recontextualize characters in new settings.
The goal is to make known a minority disease that affects the muscles but not the cognitive capacity, thus, the majority of children who suffer from it cannot walk or eat alone although their intellectual development is not affected. As it is a disease that affects 1 in 100,000 children, very few resources are devoted to biomedical research and it is only private involvement that can help improve the quality of life of these people.
The Covid19 pandemic greatly aggravates the situation of these families. On the one hand, because the affected people are at high risk and must reduce social contact, and therefore also support for families to coexist with the situation (school, leisure, relatives, specialists…). On the other hand, because they have had to stop all the solidarity initiatives to raise funds that help them finance the two open lines of research.
Share the video… we are not 24, we are thousands!
Currently, the association has accompanied two research projects, thanks to the guidance of the Scientific Committee of the ImpulsaT association and the support of companies, institutions and private donations.
- Development of a new pre-clinical gene therapy strategy for the treatment of congenital muscular dystrophy 1a.
- Uni-large: development of a new gene therapy technology to treat congenital muscular dystrophy type 1a.