Our Path to a Cure

The End Goal

We are focused on one goal: funding and accelerating the development of the first ever gene therapy treatment for SCN2A-Related Disorders.

Rather than managing symptoms, gene therapy offers the possibility of correcting the underlying genetic cause of the condition.

What is Gene Therapy?

Gene therapy uses genes as medicine.

Every cell in our body carries a set of instructions - our DNA - which tells the body how to grow, develop, and function. These instructions are organised into thousands of individual genes, each responsible for producing a specific protein that the body needs.

When a gene contains an error (known as a mutation), the protein it produces may not work properly or may not work at all. In genetic conditions like SCN2A, this single error can have devastating consequences.

Gene therapy aims to correct this problem by providing cells with a healthy copy of the gene, enabling affected cells to generate the protein that was previously absent or reduced.

Loss-of-Function and Gene Augmentation

Some SCN2A mutations are known as loss-of-function (LOF) mutations. This means the gene is unable to produce enough working protein for the brain to function normally.

One therapeutic approach for LOF conditions is called gene augmentation (also known as gene addition). Rather than attempting to fix the faulty gene, this strategy delivers an additional, functional copy of the gene to affected cells, giving them the instructions they need to work properly.

How Genes Are Delivered to the Brain

A key challenge in gene therapy is safely delivering a gene into the right cells inside the body.

To do this, researchers use specially engineered viral vectors. Viruses naturally evolved to deliver genetic material into cells. Scientists can remove the parts of the virus that cause disease and repurpose it as a safe delivery vehicle.

One of the most widely used and well-studied vectors is derived from Adeno-Associated Virus (AAV). AAV does not cause disease in humans and has been used safely in many clinical trials and approved therapies.

For neurological conditions, a specific type called AAV9 is especially promising because it can cross the blood–brain barrier and reach cells throughout the brain and central nervous system.

What This Means for SCN2A

For children like Jack with loss-of-function SCN2A mutations, gene therapy aims to restore the missing gene activity in brain cells.

The intended outcomes of this approach include:

  • Restoring critical brain signalling pathways that underpin learning, movement, and communication

  • Re-enabling developmental processes disrupted early in life

  • Reducing the severity and frequency of neurological complications, including seizure activity

  • Opening the possibility for children to gain skills that were previously out of reach

The goal is to intervene early enough to change the course of the condition, rather than only managing symptoms.

Project Overview

  • Our project is focused on developing a gene therapy for loss-of-function (LOF) SCN2A, using a gene augmentation (gene addition) approach. This strategy delivers an additional, healthy copy of the SCN2A gene to brain cells, enabling them to produce the protein that is missing or reduced.

    Because the SCN2A gene is large, the project uses a dual AAV9 delivery strategy, where the gene is split across two harmless viral vectors that work together inside the cell. AAV9 is particularly well suited for neurological conditions because it can cross the blood–brain barrier and reach brain cells throughout the central nervous system.

  • The development pathway for this gene therapy is expected to take approximately four years, with an estimated cost of ~$5 million, covering pre-clinical research, translational development, manufacturing readiness, and preparation for first-in-human studies. Our goal is for the first in-human dose to be delivered by 2030.

    By comparison, the lifetime cost of care for a person with high support needs, like Jack, is estimated to exceed $7 million - not accounting for the emotional, physical, and social impact on families. Investing in a disease-modifying therapy has the potential not only to change lives, but to significantly reduce long-term care needs and costs.

  • This gene therapy program is being developed in partnership with the Gene2Cure Foundation and is led by Professor Leszek Lisowski, Unit Head of Translational Vectorology Unit at Children’s Medical Research Institute (CMRI) in Sydney, Australia.

    Professor Lisowski is an internationally recognised leader in AAV-based gene therapy for rare genetic and neurological disorders. Together with Gene2Cure, this collaboration brings world-class scientific expertise, proven gene therapy platforms, and a clear translational pathway to the SCN2A community.

Donate to the Project

All funds raised support our active gene therapy project and the work required to develop the first ever gene therapy treatment for SCN2A.

Not someday - but urgently.

Every contribution counts