Brigitte HÃ©douin via Crowdrise
October 12, 2011
BENEFITING: Spinal Muscular Atrophy Foundation
EVENT DATE: Nov 06, 2011
Maxime Jeanne wrote -
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease characterized by muscle atrophy and weakness. The disease generally manifests early in life and is the leading genetic cause of death in infants and toddlers. SMA is caused by defects in the Survival Motor Neuron 1 (SMN1) gene that encodes the SMN protein. The SMN protein is critical to the health and survival of the nerve cells in the spinal cord responsible for muscle contraction (motor neurons).
This disease affects thousands of families in the U.S. and around the world and causes premature deaths of children. Many people are carriers of the recessive gene and could be affected, without there being any cure for it. My wife and I are expecting a little boy shortly after the NYC marathon and thought for a moment that we would be affected. Thankfully, we are not, but wanted to help families who are not as lucky as us.
All donations (less the Crowdrise collection fee) will be handed over to the SMA Foundation of New York City, which is doing a great job helping research towards the development of a treatment!
PS: If you are interested, there was a recent article on Bloomberg about SMA (there is also a TV piece about it) http://bloom.bg/p64erU