Our commitment to
rare and life-threatening genetic diseases

We work relentlessly to bring gene therapy to patients and families affected by rare and life-threatening genetic diseases, like spinal muscular atrophy (SMA), Rett syndrome (RTT) and a genetic form of amyotrophic lateral sclerosis (ALS). Our dedication to advancing gene-based medicine can make a difference in the fight against devastating hereditary diseases.

How gene therapy works

When exploring different treatment options for your loved one, it's important to understand how gene therapy works. Gene therapy is an experimental technique that may help correct defective genes that are responsible for disease development and can encode a therapeutic protein that improves cellular function.

The major steps of gene therapy are:

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1 x
Step 1The vector—an altered adeno-associated virus that can't reproduce—is used to deliver a new gene. The vector binds to the patient's cell membrane.
2 x
Step 2The vector breaks down, allowing the new gene to be injected into the cell nucleus.
3 x
Step 3With the new gene in place, the patient's cell begins producing the required protein.

The Genetics Behind SMA

Human DNA has many genes. Two genes that are involved in SMA are SMN1 and SMN2.

SMN1 Gene: Inheritable Odds

Inheriting a mutated (changed) or missing SMN1 gene prevents the body from adequately producing the SMN (survival motor neuron) protein—which is critical to the nerves that control our muscles. The result? A debilitating (and often fatal) muscle weakness called SMA.

People typically receive one copy of the SMN1 gene from each parent. Only one functioning SMN1 gene is needed to produce adequate levels of the SMN protein. Since SMA is a recessive trait, even though both parents may be healthy, each can carry and hand down a mutated (changed) or missing SMN1 gene. If the child inherits both of these recessive SMN1 genes, he or she will develop SMA.

1 in 50 Americans are carriers of a defective SMN1 gene

Two carriers have a 25% chance of having a child with SMA

SMN2 Gene: A Secondary source of SMN

To make protein, the SMN2 gene is read into an RNA sequence called "messenger RNA," or mRNA. mRNA is the “recipe” for a protein, and is read by the cell to make a specific protein, in this case SMN. Small pieces of the mRNA sequence called introns are often clipped out before it is read to make the protein. Unfortunately, a piece that is supposed to remain, EXON 7, is inadvertently cut out of most of the mRNA strands coming from SMN2, resulting in ~90% of the protein product being an unstable, dysfunctional form of SMN and only ~10% of the protein product being the full-length SMN protein.

Up to 90% of SMN protein produced by the SMN2 gene is non-functional

SMN2 modifies SMA severity— the more copies there are, the less severe the disease is

The Urgency to Treat

Early detection is a powerful weapon in the fight against SMA. Hear from doctors and parents of children with SMA about why newborn screening could make a world of difference.

SMA Newborn Screening
Watch this video to understand why the SMA Community is calling for SMA to be added to the national newborn screening panel.