What is the C9orf72 gene?

The C9orf72 gene provides instructions for making a protein that is found in various tissues. The protein is abundant in nerve cells (neurons) in the outer layers of the brain (cerebral cortex) and in specialized neurons in the brain and spinal cord that control movement (motor neurons).

Is Tofersen a gene therapy?

Tofersen is a type of antisense therapy. It is an artificially created piece of DNA that is designed to specifically bind to SOD1 mRNA (mRNA is a temporary copy of a gene that is used by the machinery of the cell to make protein).

How do you respond to ALS diagnosis?

  1. Take Time to Adjust. Being diagnosed with ALS is nothing less than shocking.
  2. Be Hopeful. Your attitude is everything.
  3. Think Beyond Physical Changes.
  4. Seek Early Treatment.
  5. Take Charge of Your Care.
  6. Engage Family and Friends.
  7. Join a Support Group.

Is Lou Gehrig’s disease and ALS the same?

Amyotrophic Lateral Sclerosis (ALS), commonly known as Lou Gehrig’s disease, is a progressive neuromuscular disease. ALS is characterized by a progressive degeneration of motor nerve cells in the brain (upper motor neurons) and spinal cord (lower motor neurons).

What is the best treatment for ALS?

The Food and Drug Administration has approved two drugs for treating ALS:

  • Riluzole (Rilutek). Taken orally, this drug has been shown to increase life expectancy by 3 to 6 months.
  • Edaravone (Radicava). This drug, given by intravenous infusion, has been shown to reduce the decline in daily functioning.

Where is SOD1 located?

Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or hSod1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21.

What does the SOD1 gene do?

The SOD1 gene provides instructions for making an enzyme called superoxide dismutase, which is abundant in cells throughout the body. This enzyme attaches (binds) to molecules of copper and zinc to break down toxic, charged oxygen molecules called superoxide radicals.