Bill Nye is back in his lab with NAF and Biogen—breaking down the science of Friedreich Ataxia in a new video series. WATCH NOW
Bill Nye is back in his lab with NAF and Biogen—breaking down the science of Friedreich Ataxia in a new video series. WATCH NOW
Friedreich ataxia (FA) is a unique, progressive type of ataxia. Ataxia refers to neurological signs including poor muscle control and clumsy movements. Some forms of ataxia, like FA, can be passed down through families in their genes. FA was discovered back in 1863 by a German pathologist named Nikolaus Friedreich.
FA is known for its typical early onset and progressive nature, meaning it gets worse over time. Most of the time, people with FA begin to experience symptoms around or before puberty, but did you know that some people with FA start experiencing symptoms in their 30s or even later?
FA is caused by a mutation in the frataxin (FXN) gene. Our DNA is made up of 4 building blocks.
In the section of DNA that holds the FXN gene, there is a portion where the building blocks are “stacked” in a G-A-A pattern called a GAA triplet.
For people with FA, a genetic mutation can cause the GAA triplet to repeat way more than it’s supposed to in the FXN gene. While not always the case, a greater number of GAA repeats may indicate earlier disease onset and how severe or progressive the symptoms will be. Not all people with a frataxin gene mutation (the FA mutation) will have the disease.
In 1996, researchers discovered that FA was caused by mutations in the frataxin gene. This was a big step forward for diagnosis and led to deeper research into potential treatments. These days, a genetic test that looks at the GAA triplet repeats in your DNA can provide a faster and more accurate diagnosis of FA.
FA is hereditary, which means the frataxin gene mutation is passed down through generations. It’s so rare because both parents need to have the genetic mutation in order to transfer it to their child. Since the mutation is passed down through parents, FA typically affects one or more siblings. It’s also possible to have FA without symptoms of the disease even being present in your family. If you’re experiencing symptoms, it’s important to consider genetic testing to confirm your diagnosis.
The Science Guy: Back in the Lab for FA is brought to you by a joint effort from the National Ataxia Foundation (NAF) and Biogen, two leaders in the Friedreich ataxia space.
Meet two science guys with close ties to ataxia. Bill Nye has a long-standing relationship with NAF and has family members with a type of ataxia called Spinocerebellar ataxia type-27B (SCA27B). Bill is dedicated to helping others by spreading knowledge about ataxia. Christian M is a PhD student who has Friedreich ataxia. He studies molecular biology in hopes of one day finding a cure for his disease.
You are leaving the National Ataxia Foundation (NAF) website. This link will take you to the Biogen-sponsored site, WeAreFA.com.
You are leaving the National Ataxia Foundation (NAF) website. This link will take you to the Biogen-sponsored site, WeAreFA.com.