Luke Stockdale, Ethical Healthcare’s Chief Technology Officer, shares how his work at Ethical Healthcare is helping him support charity, TBX4Life, to advance understanding and treatment options for those diagnosed with rare genetic condition, TBX4.

 

 

A few months ago, I discovered that I had a TBX4 gene mutation. If you’ve never heard of it, you’re not alone! TBX4 is a rare genetic condition that can affect the lungs, heart, and knees—and many people may go their entire lives without even realising they have it. For me, I had bad knees for years, and I eventually found out the cause through genetic testing after a family member showed symptoms in other areas.

While doing some research to find out how I was going to be affected, I came across TBX4Life, a fantastic charity that aims to create a global framework where scientists, clinicians and families can collaborate and drive research about TBX4 together. I soon realised that I could utilise the skills developed in my NHS career and current role as Chief Technology Officer at Ethical Healthcare – a digital health consultancy – to support them in their mission.

Supporting TBX4Life

Since my diagnosis, I’ve been actively involved with TBX4Life, contributing 5–10 hours per week—mostly during evenings to align with U.S. time zones. My role within the charity focuses on Programs and Projects, helping to drive initiatives that support research and patient communities. It’s been an eye-opening experience, and I’ve gained a deep appreciation for the dedication of those working tirelessly to advance understanding and treatment options.

The San Francisco Conference: A Global Gathering of Experts

Last week, I attended their annual conference in San Francisco, bringing together leading specialists from around the world to discuss TBX4 research and clinical advancements. The goal? To collaborate on finding better treatments and, ultimately, a cure.

One of the key projects I was involved is supporting the development of a Clinical/Research Roadmap which is very similar to my role at Ethical working with experts and teasing the knowledge out of them. My role was to help facilitate conversations and create a structured framework for experts to co-produce a shared roadmap. Before the session, I wondered if people would be protective of their research and ideas. Instead, I was blown away by the spirit of collaboration—everyone was eager to share, refine, and build upon each other’s work. Next year at the conference we are going to update on where are against the roadmap.

I’ll admit, some of the scientific discussions were far beyond my understanding! But my focus was on bringing structure to the conversation, ensuring that we could translate these expert insights into an actionable roadmap. Thanks to a fantastic group of facilitators, we are well on our way to producing a globally co-produced research/clinical roadmap working towards finding a cure for TBX4Life.

What’s Next?

Following the conference, we are now looking to ignite two major global projects:

  1. A Natural History Study– This will help track how TBX4 affects people over time, giving researchers a clearer picture of its progression and enabling the sharing of data.
  1. A Biobank Repository– Creating a shared resource where patient samples can be stored and sent across the globe for to enable more research.

These initiatives could be game-changers in understanding and treating TBX4, and I’m incredibly excited to see where they lead.

Ethical Healthcare’s support

None of this would have been possible without the incredible support of the team at Ethical Healthcare, who generously enabled me to attend the conference. Their commitment to meaningful social impact aligns perfectly with the values I hold dear.

This journey—from learning about my own diagnosis to actively contributing to global research efforts—has been both personal and profoundly rewarding. I’m excited for what’s to come and grateful to be part of a community working to make a real difference.

If you’re interested in learning more about TBX4 or getting involved, check them out here https://tbx4.org/