What is NARS1 Disorder?
NARS1 disorder is an ultra rare condition that affects very few people — we know of less than 100 cases worldwide! It happens because of change in a part of our genes called the NARS1 gene.
What Does the NARS1 Gene Do?
Think of genes as little instruction books for our bodies. The NARS1 gene helps create asparaginyl-tRNA synthetase. This is an enzyme that assembles building blocks called amino acids into proteins. Proteins are an essential part of our body functions.
When there’s a change, or mutation, in the NARS1 gene, it can’t do its job properly. This means that our bodies can’t make the right proteins. And proteins are like the workers in our bodies—they help us grow, move, and stay healthy.
What Happens When There is a Variant in NARS1?
Because of this, those with NARS1 disorder can have a variety of challenges, such as:
Smaller Heads: Some children might have smaller heads, a condition called microcephaly.
Long Fingers or Toes: Their fingers or toes might be longer than usual.
Seizures: They may experience different types of seizures, which can affect their brain activity.
Walking Difficulties: Some kids might have trouble walking on their own or may even need help moving around.
Speaking Issues: They might find it hard to talk or may only be able to say a few words.
Eating Problems: Some children may struggle to eat on their own, which can sometimes require a feeding tube.
Muscle Spasms: They may have muscle spasms that can be uncomfortable.
Tingling or Numbness: Kids might feel tingling, numbness, or pain in their arms and legs.
NARS1 Symptoms
This image displays the currently known symptoms associated with NARS1 disorder. We are continuously learning about NARS1 so we will update this as we know more.
Your input is vital to creating a picture of known symptoms, that’s why we ask you sign up to the RARE-X database and complete the surveys.
Note: no one will experience all of these symptoms
Introduction to NARS1 Disorder and Genetic Diseases
This video gives you a clear introduction into NARS1 Disorder and rare genetic disorders.
Learn more about living with NARS1 Disorder directly from our community
This video was created for our 2023 gala fundraiser with the help of our families with NARS1 disorder.
Have you come across the term gene therapy and wondered what it was?
We love the explanation in this video from the American Society of Gene & Cell Therapy!
Gene therapy is a groundbreaking way of treating diseases by fixing problems in our DNA—the instructions that tell our bodies how to work. Imagine if your body had a recipe book and one of the recipes was missing an important ingredient. Gene therapy is like a special delivery service that brings the missing ingredient right where it's needed. For people with rare conditions like NARS1 disorder, this kind of therapy holds incredible promise, offering hope where there once was none. But creating a cure is not simple—it takes years of hard work, teamwork, and a lot of money.