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“Cure SMA leads the way to a world without spinal muscular atrophy (SMA), the number one genetic cause of death for infants. We fund and direct comprehensive research that drives breakthroughs in treatment and care, and we provide individuals with SMA and their families the support they need for today.”

What is Spinal Muscular Atrophy?

SMA is a progressive neurodegenerative disease that affects the motor nerve cells in the spinal cord and impacts the muscles used for activities such as breathing, eating, crawling, and walking. It is the number one genetic cause of death for infants.

Spinal muscular atrophy (SMA) is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Individuals with SMA do not produce survival motor neuron (SMN) protein at high enough levels. Without this protein, those nerve cells cannot function properly and eventually die, leading to debilitating and sometimes fatal muscle weakness.

SMA affects approximately 1 in 11,000 births in the U.S., and roughly 1 in every 50 Americans is a genetic carrier. SMA can affect any race or gender.

There are 4 primary types of SMA; 1, 2, 3, and 4 (based on the age that symptoms begin and the highest physical milestone achieved up until that point). Individuals with SMA have difficulty performing the basic functions of life such as breathing and swallowing. However, SMA does not affect a person’s ability to think, learn, and build relationships with others.

Cure SMA Research Strategy Approach

Cure SMA focuses on three main areas in research strategy.

Basic Research: investigating causes and biology of Spinal Muscular Atrophy, which is essential in revealing new and effective ways of making drugs for treatment.

Drug Discovery: conversion of what is learned from basic research (causes and biology of SMA) into new drug candidates that can be tested in clinical trials.

Clinical Trials: testing of new drugs and treatments, or new applications of already approved drugs and treatments (i.e. different combinations or for different diseases)