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.
Our mission is to find a treatment for MVA patients – to give them a better and longer life.
To support this mission, our work focuses on 3 key areas:
1. We fund research with one goal: to find a treatment!
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, Dr Harry Leitch and experts across genetics, oncology, and rare disease - to ensure every ‘pound’ funds the most promising pathways toward treatment.
2. Building an MVA ‘ecosystem’
Our ecosystem consists of patients, families, doctors, scientist, researchers, industry, other RD charities, politicians, our IT, PR, marketing and fundraising partners and other, general supporters! Our ecosystem includes conferences, patient information, charity dinners, and hopefully one day a patient registry. There is strength in numbers. Given the rarity and lack of awareness of the condition, we have to take a global approach to building our network and finding patients/families and anyone with first-hand experience of MVA. Our numbers are small – but our determination and grit is mighty! Our ecosystem is at the heart of what we are all about! Together, we are stronger!
Eventually, we also hope to establish a patient registry. This will also require funding support. The patient registry will help establish a natural history of the condition, which indirectly will then support our research efforts as well as potential links with industry.
3. Creating a Blue-Print for other Rare Disease Charities
We believe that the groundbreaking work we are undertaking for the ultra-rare condition, MVA, can help and benefit other rare disease charities. We aim to be an exemplar in that regard! This includes:
- Establishing a research strategy
- Rolling out a research strategy aligned to finding a treatment – in our case probably through drug repurposing
- Building out a global network to build an ecosystem around the condition
- Creating patient guides, support and expert advice
- Fundraising – in an environment that is increasingly challenging to find funds!
- Building out a rare disease charity organisation from scratch, to support finding a treatment for one of the worlds rarest, and most challenging of conditions.
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.