This site is dedicated entirely to scientific research on Spinal Muscular Atrophy, also known as SMA (acronym for Spinal Muscular Atrophy), a serious genetic disease against which so far there is no treatment.
But the world studies and, as the research progresses, there is increasing recognition that we are now close to a cure. The countdown has begun and soon will be the day when the dream will become reality!
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 copy.
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.
This site is supported with the help of ASAMSI - Associazione per lo Studio delle Atrofie Muscolari Spinali Infantili, Famiglie SMA and UILDM - Unione Italiana Lotta alla Distrofia Muscolare under a common project for a simple and correct scientific information.
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HONcode is designed for three target groups: the general public, health professionals and web editor, actively involving the site owner in the certification process.
- SMA is the #1 genetic killer of young children;
- SMA is estimated to occur in nearly 1 out of every 6,000 births;
- 1 in every 35 people, or nearly 10 million Americans, unknowingly carries the gene deletion responsible for SMA; few have any known family history;
- SMA is a pan-ethnic disease and does not discriminate based on race, ethnicity, or gender;
This site is aimed at everyone involved in the fight against spinal muscular atrophy, whether patients and their families, physicians, health professionals or students of the area. The information in this site serves to enhance, not replace, the doctor-patient relationship.
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LAST UPDATE: January 12, 2012
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CAUTION Medical contents on the site are purely for guidance and information and cannot replace in any case the medical advice.
All contents provided by the site are written exclusively by professionals in the medical-scientific area, unless an explicit statement does not specify otherwise.
- - Isis initiates phase I clinical study of ISIS-SMNRx
- - Systemic ASO injections rescue SMA mice
- - Update on the phase I trial for drug RG3039
- - End of patient enrolment in efficacy study of olesoxime
- - Prolactin improves motor function and enhances survival time in SMA mice
- - The SMA drug rush
- - New data on ISIS-SMNRx at the 2011 annual SMA Conference
- - Repligen receives FDA approval to initiate RG3039 clinical trial
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