The event, hosted in collaboration with the Rory Belle Foundation, marked a meaningful step forward in building a global community around this rare condition.
In 2020, research led by UCL scientists identified mutations in the NARS1 gene as a significant cause of epilepsy and a complex neurodevelopmental disorder. Symptoms can include microcephaly, developmental delay, language impairment, and movement difficulties. The NARS1 gene produces a protein essential for constructing other proteins, critical for healthy brain development. When disrupted, it affects how brain cells grow, function, and communicate.
Since then, Dr Stephanie Efthymiou, Research Fellow at the Neurogenetics Lab and Scientific Advisory Board member of the Rory Belle Foundation, has been working closely with families affected by this condition. Together with the Foundation, now supporting over 80 families globally, her team is building a robust patient registry and collecting biological samples to create induced pluripotent stem cells (iPSCs). These are used to model the disease in the lab and lay the groundwork for future therapeutic trials.
The Patient Engagement Day offered far more than scientific updates. It was a chance for families and researchers to connect, share personal journeys, and engage in open, meaningful dialogue.
“Having spoken to families many times before, we felt it was important to create a space that went beyond presentations,” said Dr Efthymiou. “There was a real focus on sharing individual experiences and fostering mutual understanding—something that benefited all of us who attended.”
The event included family-led discussions around diagnosis, treatment experiences, and ongoing clinical trials, alongside updates from Dr Efthymiou and Annarita Scardamaglia on the team’s latest research using iPSCs to study NARS1 disease mechanisms.
Families were also invited on a behind-the-scenes tour of the labs and participated in interactive sessions highlighting the active role families play in shaping future studies.
“We had a fantastic family meet in London,” shared the Rory Belle Foundation. “Meeting Stephanie and the team, touring the lab, and connecting with other families was incredibly meaningful. So many stories were shared, interventions compared, and the sense of support reaffirmed just how important these connections are.”
This collaborative work is already showing momentum. Dr Efthymiou recently received funding to differentiate patient-derived iPSCs into cortical neurons, enabling deeper characterisation of how NARS1 mutations affect brain development. The goal is to create a long-term resource of accessible information and biological materials for future research, with a clear focus on improving outcomes and meeting the needs of those affected by NARS1.
About the Rory Belle Foundation
The Rory Belle Foundation is a nonprofit organisation supporting individuals and families affected by rare genetic diseases, including NARS1. Founded in honour of Rory Belle, the Foundation funds research, advocates for improved care, and builds community among families navigating these complex conditions.
Based at the UCL Queen Square Institute of Neurology, the Neurogenetics Lab is a world-leading research group investigating the genetic causes of neurological disease. The team is dedicated to uncovering new disease mechanisms and discovering novel genes linked to both rare and common neurological disorders. Through global collaborations and access to state-of-the-art genomic technologies including our in-house Long-Read Sequencing Facility, we are advancing the development of more accurate diagnostics and helping pave the way for future therapeutic strategies.
Links
Images
- Main image: Professor Henry Houlden, members of Neurogenetics lab and NARS1 families.
- Annarita Scardamaglia and Dr Stephanie Efthymiou presenting latest updates on NARS1 research