Bringing Our Community Together: Reflections from the Croatia Family & Researcher Gathering
In September 2025, something truly special happened. Families affected by NARS1 Disorder, along with researchers and clinicians from around the world, gathered in Croatia for the first-ever Rory Belle Foundation Family & Researcher Gathering.
Many of us had never met in person before, only on screens, in messages, or through shared updates. Meeting face-to-face was emotional and grounding. There were hugs between people who had never technically met but already knew each other’s stories. There were late-night chats, shared meals, laughter, and a quiet sense of “we get it.”
For families, it was a chance to connect with others who truly understand. For researchers, it was an opportunity to hear firsthand what living with NARS1 Disorder really means. And for all of us, it was a reminder that progress happens fastest when science and lived experience move together.
Event Videos & Highlights
The event combined research updates, family discussions, and roundtables, with each conversation helping to bridge the gap between science and everyday life.
Supported by the Chan Zuckerberg Initiative, this gathering reflected how far the Foundation has come. Thanks to CZI, we’ve been able to build infrastructure, hire key team members, and strengthen our ability to deliver meaningful, long-term impact.
Below are highlights from the day. The full sessions are available to watch on our YouTube channel.
NARS1 Basics with Ingrid
After introductions from families and researchers, Ingrid kicked us off with a recap of what NARS1 is and how it affects patients. For many families, this talk was one of the most memorable moments.
As our Scientific Advisor (and someone who recently completed her PhD on NARS1) she explained the science in a wonderfully simple way, turning complex genetics into something we could all visualize.
She described DNA as a recipe book and explained what happens when just one letter in that recipe changes. That change can be small, or it can change everything. Through her analogies, the science became more than theory; it became a story about why every NARS1 journey is unique. We were so inspired by this that we updated our Introduction to NARS1 leaflet.
She also walked us through inheritance patterns, how variants appear, and the models researchers are building to test potential treatments safely — from cell models to mouse models to zebrafish.
It was the kind of talk that left people nodding, smiling, and whispering, “Ah, now I get it.”
Yeast Models & NARS1 Nonsense Variant Models and Asparagine Rescue – Dr. Ilka Heineman
Next up, Dr. Ilka Heineman, one of our 2024 research grant recipients, shared how she has used the funding to develop yeast models to study NARS1.
By recreating NARS1 variants in yeast cells, her team can see how specific genetic changes affect protein function and whether adding asparagine (the amino acid linked to NARS1) can “rescue” that function.
For the community, this work is a major step forward. It helps scientists understand which variants are most disruptive and provides clues for future treatment strategies involving nutrient or compound support.
Biomarkers and Advancing Toward a Cure for NARS1 Disorder – Marissa Mendes, MSc (Amsterdam UMC)
In this session, another of our 2024 grant recipients, Marissa Mendes, shared her search for biomarkers - measurable signs in blood or tissue that reflect how NARS1 is functioning.
Why this matters for NARS1 families:
Biomarkers are essential for tracking how treatments are working.
They help define what success looks like in future clinical trials.
Establishing validated biomarkers is a key step toward real therapies.
Her research helps translate lab findings into clinical progress, moving us closer to the day when treatments can be meaningfully tested.
Dr. Stephanie Efthymiou Explains NARS1 Axonal Neuron Development
Dr. Stephanie Efthymiou unfortunately couldn’t join us in Croatia but sent a video update on how she has been using 2024 funding from the Rory Belle Foundation.
Her work began with patient-derived cells from our own community — a powerful reminder of how every donated sample helps move research forward.
Key findings:
Patient-derived neurons show early developmental defects and subtle, progressive synaptic dysfunction.
Overall protein synthesis remains largely stable, suggesting NARS1 Disorder may affect how neurons connect rather than whether they can grow.
Neuromuscular junctions (where nerves and muscles meet) appear normal at first but show small changes over time, hinting at progressive communication issues between brain and muscle.
Future research will focus on neuron growth, synaptic health, and identifying targets to support these processes.
For families, Stephanie’s work reinforces the vital role of community participation in science, each donated sample helping uncover how NARS1 works and how it might one day be treated.
Looking After Ourselves
Science and research are a huge part of our journey at the Rory Belle Foundation and as parents and caregivers. In our most recent survey, finding therapeutics and a cure came out as a top priority. While we continue to work toward that, another key factor is looking after ourselves.
As caregivers, we often put ourselves at the bottom of the list, but we are the most important people in our children’s lives. We are their advocates and champions every single day, which means we need to care for ourselves, too.
Cat led a discussion on how we can do just that, and the small things that make a big difference. Parents shared how they “filled their cups,” from taking time to study, to going for a walk, to hitting the gym.
Watch the full video to see all of the shared tips, and feel free to add your own in our Facebook Group.
Foundation Updates with Rachel
Our co-founder Rachel shared organizational updates, including how the CZI grant has strengthened the Foundation’s capacity. That support has allowed us to hire dedicated team members, improve donor systems, and plan sustainably for the long term.
She also highlighted exciting scientific progress:
The launch of the 2025 Request for Proposals for new NARS1 research
A new mouse model in development at Jackson Labs
Work beginning on a digital natural history study
Early drug repurposing projects
Each update represented one thing: progress through collaboration.
Clinical Outcomes with Rachel
Rachel also spoke about clinical outcomes (how we measure what matters most to families) and shared the results of our most recent survey.
Because NARS1 Disorder is rare and globally dispersed, traditional long-term studies are difficult. The Foundation is exploring ways to collect this data digitally so every family can participate.
Understanding outcomes means understanding what improvement really looks like, and designing future treatments around those priorities.
Drug Repurposing with Rachel
This session explored how the Foundation is pursuing drug repurposing, identifying approved medications that could potentially help those with NARS1 Disorder.
Why this matters:
Repurposed drugs are faster to test and safer to use.
They offer shorter timelines between discovery and real-world application.
They could provide symptom relief while gene-specific treatments continue in development.
This session showed that progress isn’t just possible — it’s happening.
Ingrid Interviews Dr. Alice Hadchouel on Asparagine
In this interview, Ingrid spoke with Dr. Alice Hadchouel about the role of asparagine in NARS1 function.
Key takeaways:
Asparagine is essential for how NARS1 operates; without it, protein production is disrupted.
Research is exploring whether supplementation could help restore some function in affected cells.
Careful study is needed to determine safe, effective use, but findings so far highlight metabolism as a promising area of investigation.
For families, it’s a glimpse into a future where dietary and metabolic understanding could complement genetic therapies.
Rachel Interviews Dr. Joe Gleeson from the n-Lorem ASO Program
In a conversation filled with hope, Rachel spoke with Dr. Joe Gleeson about the n-Lorem ASO Program, which is developing a personalized antisense oligonucleotide (ASO) therapy for the p.Arg534* variant.
Key takeaways:
The ASO aims to “read through” a premature stop signal in the gene, restoring normal protein production.
Pre-clinical results are promising, with safety testing underway.
This model could pave the way for other mutation-specific treatments across the NARS1 spectrum.
For our community, it’s a real-world example of personalized medicine in action, hope built from hard data and human collaboration.
Collaboration Is Key
Croatia reminded us that when researchers, clinicians, and families come together, extraordinary things happen.
Finding therapeutics or a cure for NARS1 Disorder isn’t the job of one person or one organization. Every single person has a role. Families sharing knowledge through surveys or samples are helping researchers move forward. Fundraising from our community helps the Foundation grow and continue supporting research and families alike.
For a community as small as ours, connection and collaboration mean everything.
How You Can Help
If you’d like to get involved, you can:
Join our mailing list for research, survey, and event updates
Follow us on social media to connect with families worldwide
Share our videos and resources to raise awareness
Support our work through donations or partnerships
Complete our Rare-X Surveys to provide vital real-world information about NARS1 Disorder
Together, we’re building a stronger, more connected NARS1 community — one discovery, one conversation, and one gathering at a time.