MICRODELETION SYNDROME 5Q14.3-MEF2C

The microdeletion syndrome 5q14.3-MEF2C Association has beenfounded by families of children affected by this rare disease in order to raise funds for future research and treatment.
This syndrome is based on the lack of a gene or part of a gene on chromosome 5. Specifically, children of this association have the MEF2C gene affected . This Disease affects psychomotor development causing a significant delay with autism spectrum traits and epileptic seizures. There are only about 60 cases diagnosed worldwide with this rare disease.
There is now a research team at the University of California, San Diego (UCSD), led by Dr. Stuart Lipton, who is developing possible treatments for this disease. Dr. Lipton and his group have thrown themselves into this investigation which is in an advanced stage. However, it needs funding to move forward and to treat our children one day in a near future.

I feel the urgency in developing a treatment for our children, probably quite similar to your own feelingsStuart Lipton


Last News

Thanks to Luna Saez, our website has an English version

From our Facebook, today we want to thank Luna Saez, she is a great friend of ours and has... read more

Literary day in benefit of the MEF2C Syndrome

Next Saturday, December 2 at 12 noon at the Librería Bartleby ( Valencia) it will be presented the collection... read more

The Kids & Us English school joins the 100×100 challenge with the MEF2C

We keep adding! There are many people who are 100x100 with us. The English school Kids & Us Lugo joins... read more