Spinal muscular atrophy (SMA) is an inherited neuromuscular disease, caused by deletion and/or mutation in the SMN1 gene (survival motor neuron). This gene is responsible for the production of a protein which is essential to the proper working of the motor neurons. People who are missing both copies of SMN1 have SMA, while carriers are missing only one.

There is a similar copy of SMN1, called SMN2, which even people with SMA always have. However, the SMN2 gene is just different enough that it does not 'quite' produce the necessary protein. The lack of this protein causes the motor neurons in the spinal cord to degenerate - resulting in SMA. It isn't possible to simply inject this protein into the bloodstream or muscles, or eat it - it is produced within individual cells for use within those cells. However, if the SMN2 gene could somehow be changed, so that it produces the correct protein, in sufficient quantity, this might lead to an effective therapy for SMA.

The purpose of scientific research on spinal muscular atrophy is the discovery of effective treatment. This is an extraordinary challenge because the disease is caused by the lack of an essential protein, encoded by the gene SMN1. Most drugs used in treatment of diseases block the function of proteins, only few increase or replace it. To win this important challenge is important to consider multiple approaches in order to increase the chances of success. It is as a game of hockey, where more shots on goal more likely to score.

The research areas include: basic research on the function of SMN, model development and testing in vitro for the evaluation of compounds to increase the production of protein or correct the process of splicing, drug discovery research, treatment with stem cells and development of a rigorous system of measurement and evaluation protocols to be used in clinical trials, clinical research.

This site is dedicated to the memory of Federico Milcovich and of those who have died prematurely because of the SMA and other neuromuscular diseases.