• Sanfilippo syndrome is a rare disease that causes the premature death of those affected, between 15 and 20 years old.
• In Spain there are 12 cases and 250 in the world.
• Gene therapy is the only way to research this disease and has cost 4 million euros.
Following the success of the project against cervical cancer, funded by users of MeQuedoUno.com through the widget of Worldcoo, it is time to explain another illness, Sanfilippo Syndrome (Mps III). The new charity project seeks to raise funds for research into this ultra-rare disease, affecting 250 families in the world and 12 families from Spain. Currently there are 7000 rare diseases. The challenge is for 2500 euros to go directly to the foundation to fund Sanfilippo Barcelona. This small contribution will finance part of the € 4million costs of research funds that are needed.
Sanfilippo Syndrome is a cumulative, degenerative and fatal genetic disease that attacks the central nervous system causing severe motor and mental deterioration. Due to the lack of an enzyme (protein) in the body, the body does not degrade large molecules of sugar accumulating in the lysosomes. A person without this disease would eliminate these substances through urination. These substances accumulate in your brain, gradually becoming toxic, thus killing all cells, causing premature death, between the ages of 15 and 20. To date, their only hope is the so-called scientific gene therapy, led by Drs. Bryan Bigger, University of Manchester and Dr. Alexey Pshezhetsky, Montreal. Gene therapy is mainly based on the direct introduction of a vector in the brain. Today its effectiveness has been demonstrated on an animal model (mice) whilst waiting to be conducted in the clinical trial with humans.
La Fundacion Sanfilippo Barcelona was founded in 2010 in the city of Terrassa, after the founders received the fateful diagnosis of Pol, their son. They saw that there was no treatment around the world that could save his life. From here, they tirelessly sought scientists around the world and began working with them in a race against time, with the sole purpose of finding the cure against Sanfilippo Syndrome.
The foundation is part of the consortium called Hands, Sanfilippo composed of different organizations around the world:
– Jonah’s Just Begun (USA) – JLK Foundation (USA).
– Sanfilippo Sud (France).
– Sanfilippo Barcelona (Spain).
Between them all they are financing gene therapy due to large individual initiatives.
Thank you again, MeQuedoUno.com, for being a socially responsible ecommerce and willing to continue to generate social impact through your users.