What We Do
Turning an untreatable diagnosis into real progress - through research, advocacy, and support
Mosaic Variegated Aneuploidy (MVA) is one of the rarest genetic conditions in the world, affecting fewer than 50 known individuals. Until recently, there was no research, no dedicated support, and no treatment guidance. We’re here to change that.
At the MVA Society, our work focuses on three key areas:
1. We Fund Research with One Goal: Finding a treatment or cure
There are no approved treatments for MVA. That’s why we’re investing in targeted, strategic research designed to lead directly to therapies - not just academic understanding. We’re currently funding studies that:
- Repurpose existing drugs to manage symptoms faster than developing new ones
- Use single-cell RNA sequencing to map what’s happening inside the body at a molecular level
- Analyse how MVA cells react when treated with specific supplements, to see how protein levels can be boosted
We work closely with our Medical Advisory Board - including Professors Anil Dhawan, Harry Leitch and experts across genetics, oncology, and rare disease - to ensure every pound funds the most promising pathways toward treatment.
2. We Provide Expert Advocacy and Lifelong Support
MVA doesn’t just affect children - it’s a lifelong condition. And for families facing diagnosis, the journey can be overwhelming and isolating. We offer:
- Crisis support at diagnosis
- Healthcare navigation - helping families connect with the right specialists
- Access to global experts and innovative treatments
- Support across the lifespan - from childhood to adulthood
We’re here to ensure no one is left alone, and that people with MVA get the best care possible - now, and in the future.
3. We Share Trusted, Expert-Led Information
Because MVA is so rare, most families - and even many doctors - have never heard of it. We create and share:
- Clear, expert-reviewed resources about MVA symptoms, diagnosis, and care
- Guidance for clinicians who need support in treating someone with MVA
- Patient-focused information that’s honest, realistic, and accessible
Our goal is to make MVA less mysterious, and more manageable - for families, adults living with MVA, and the professionals who care for them.
Why It Matters
With fewer than 50 people affected worldwide, we serve the entire known global MVA community. That means our work doesn’t just make a difference - it makes the difference. But we can’t do this without your help. Together, we can move MVA from a forgotten diagnosis to a condition with:
Real Research
Expert Care
Growing Community Support
Find out more about us
Read more about what we do, the inspiration behind the charity and the people behind it.