A groundbreaking partnership between the FamilieSCN2A Foundation and biotechnology company Cellectricon aims to revolutionize drug development for SCN2A-related disorders (SRDs), a group of severe conditions causing epilepsy and autism spectrum disorder.
Understanding SCN2A and Its Impact
SCN2A encodes the sodium channel NaV1.2, crucial for neuronal signaling and brain function. Genetic variants in SCN2A can manifest as either gain-of-function mutations, leading to early-onset epilepsy, or loss-of-function mutations, resulting in intellectual disability and autism spectrum disorder. The complexity of these variants, often showing mixed effects, has historically complicated treatment approaches.
Revolutionary Screening Technology
Cellectricon's platform represents a significant advancement over conventional methods. The technology combines high-throughput electrode systems with fluorescence imaging to measure neuronal excitation in real-time using human stem cell-derived neurons. This approach provides more accurate and reproducible data through controlled electrical stimulation, unlike traditional methods that rely on spontaneous activity in non-neuronal cell lines.
"We see great opportunity in applying our deep know-how and unique approach to probing neuronal activity in human stem cell-derived models to improving the lives of individuals affected by SRDs," stated Mathias Karlsson, Chief Executive Officer at Cellectricon.
Immediate and Long-term Benefits
The collaboration aims to deliver both short-term and lasting impacts:
- Immediate focus on identifying how specific SCN2A variants affect neuronal activity
- Development of precision therapies tailored to individual variants
- Creation of a standardized screening assay for worldwide use
- Establishment of shareable cell lines to advance global research efforts
"Cellectricon's expertise will help accelerate the evaluation of potential treatments for SCN2A-related disorders, shortening drug development timelines and attracting more interest from pharmaceutical partners," explained Shawn Egan, Chief Scientific Officer of FamilieSCN2A.
Broader Applications in Neurodevelopmental Disorders
The potential impact of this partnership extends beyond SCN2A-related disorders. The validated assay platform could benefit research into other developmental and epileptic encephalopathies (DEEs) and neurodevelopmental disorders, representing a significant advancement for the entire field of neurological research.
Infrastructure Development and Future Prospects
The partnership focuses on establishing crucial infrastructure for SCN2A drug development, including:
- Validation of the screening assay
- Creation of an SCN2A allelic series of NGN-2 iPSCs
- Housing of research materials at Cellectricon's facilities
- Streamlined access for drug developers and researchers
This collaborative effort marks a significant step toward the FamilieSCN2A Foundation's vision of developing effective treatments and cures for all SCN2A-related disorders, while potentially accelerating therapeutic development across the broader spectrum of neurodevelopmental conditions.
