Get to Know The Rory Belle Foundation

About NARS1 Disorder

The first pathogenic variants for NARS1(asparaginyl-tRNA synthetase 1) disorder were reported in 2020. The NARS1 gene is located on chromosome 18 and is a member of the class II tRNA synthetases located in the cytoplasm. NARS1 disorder is deficiency of the aminoacyl-tRNA synthetase (aaRSs) that catalyze the specific attachment of each of 20 amino acids to a cognate tRNA. In addition to the cytoplasmic located tRNA synthetases, there are 17 mitochondrial class 1 tRNA syntheases with similar function (ex. NARS2). Initial publications reported moderate to severe neurodevelopmental phenotypes with both de novo and autosomal recessive inherited cases. There are currently about 60 known individuals in the world diagnosed with NARS1 disorder with just over 30 in the published literature.

NARS1 Clinical Features

The clinical features of the NARS1 disease suggest the involvement of both the central and peripheral nervous systems, adding to the difficulty that parents and/or caregivers experience caring for these children. The full spectrum of the NARS1 disease includes delayed walking, variable gait abnormalities, seizures, GI issues, neuropathy, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. A redundant de novo variant, p.Arg534*, is slowly emerging as the predominant population, but individuals appear to be more mild to moderate in symptoms compared to the profoundly impacted inherited cases.

Get to Know The Rory Belle Foundation

Founded in 2022, The Rory Belle Foundation is the only known patient advocacy organization dedicated to bringing awareness, driving research, and community engagement for NARS1 disorder. With currently about 10 U.S. cases, our organization has been striving for inclusivity for all those impacted by this devastating disease with a goal to provide therapeutic interventions.

I am Especially Proud of...

We are most proud to have founded and grown our researc community 6 fold in one year. When we started in 2022, there was a single researcher and clinician studying NARS1. We have made an effort to build a world-wide community, developing trust to engage those families in a caregiver-entered data collection platform, and to present internationally our initial findings. It takes a lot of courage to do the work that we are all doing. There's a lot to be proud of!

Excited to REN Because...

REN gives us an opportunity to learn and make new and lasting relationships with those with more experience and insight. We hope to provide the same collaboration in return to others. Additionally, the information, research, and opportunities shared in various venues accelerate our ability to support our own community.

My Journey and Motivation...

For me, my motivation began with my daughter Rory Belle. I have spent my career in healthcare and didn't know how isolating it could be to have a critically ill child. Rare disease was there, but it wasn't present in my daily life. As a caregiver, I have never felt so alone as I have the day I received Rory Belle's diagnosis. She only lived 17 months in this world, but her namesake Foundation stands as a testament to live every day for the joy and moments that are precious to us all.

By: Rachel Heilmann, President, Cofounder