What is AGS?

Aicardi-Goutieres Syndrome

By Jhanvi Patel and Moriah Chariz Cabadin

Aicardi-Goutières Syndrome (AGS) is defined as “an inherited disease that mainly affects the brain, immune system and skin” (NIH Genetic and Rare Diseases Information Center). AGS is caused by a mutation in a small group of specific genes. This mutation leads to a buildup of DNA in the brain, which is believed to trigger the immune system response and produce AGS symptoms. 

There are two forms of AGS: early-onset and late-onset. 20% of diagnosed infants are affected by the early-onset of AGS. The early-onset is the more severe form of the condition. While early onset patients’ chances of survival past childhood are slim to none, patients diagnosed with late-onset have a chance of survival into adulthood. However, their quality of life may be diminished due to the intellectual or physical impairments caused by AGS. Infants, toddlers, and children deal with unimaginable pain and suffering because of AGS. 

The newly founded AGS Awareness Organization is committed to raising awareness and funding for research in support of new treatment methods and a cure for AGS. To raise awareness, the AGS Awareness Organization uploads informational content on social media. They have also launched a GoFundMe, where all donations go towards the Aicardi-Goutières Syndrome Americas Association (AGSAA). To get involved and learn more about AGS, check out @agsawareness on Instagram and Facebook or go to their website at agsawareness.carrd.co!

References:

Children’s Hospital of Philadelphia

NIH Genetic and Rare Diseases Information Center

NIH National Institute of Neurological Disorders and Stroke