First MVA Research Conference to Take Place at Great Ormond Street Hospital

Clinicians and researchers from around the world will meet at Great Ormond Street Hospital (GOSH) on 17 September for the first MVA Research Conference hosted by the MVA Society.

Fewer than 50 people worldwide are known to have Mosaic Variegated Aneuploidy (MVA), an ultra-rare genetic condition that affects the way cells divide and grow. This can result in some cells having the wrong number of chromosomes, which may cause growth and developmental differences, learning disabilities and an increased risk of certain cancers.

With such a small global patient population, research, specialist expertise and clinical experience are fragmented, and there is no agreed treatment and support pathway. The conference has been created to address those gaps, identify shared priorities and establish practical next steps for research, treatment and care.

Jonathan Bracey founded MVA Society in 2024 after learning that his two-year-old son had MVA.

He says: “When our son was diagnosed, we discovered very quickly how little information, research and support there was simply because MVA is so rare. But rarity cannot be an excuse for inaction. It should not mean less research, less support or no clear pathway for families, and that is exactly why we are doing this work.”

“Bringing international experts together to focus on MVA disease modelling, novel therapeutic strategies, patient registries and cohorts, and clinical management is a significant step. For us, the real measure of success is what leaves the room: new collaborations, clearer priorities and practical next steps that can move MVA towards better treatments and care.”

Speakers include Jan van Deursen, Brian North, Marcos Malumbres, Andre Brown, Will Foulkes, Audrey Putoux, Ciaran McCarthy, Shinya Matsuura, Silvia Natsuko Akutsu, Harry Leitch and Mel Dixon.

Discussions will cover disease modelling and drug repurposing, alongside the UK MVA National Audit and international clinical experience. Mel Dixon, founder and CEO of Cure DHDDS, will also share her experience of building a pathway towards treatment for another ultra-rare genetic condition where none previously existed, providing a practical example of what can be achieved from the ground up.

Jonathan added: “By bringing together the people, research and experience around MVA, we can identify practical next steps towards a clearer treatment and support pathway. It is all part of what MVA Society is here to do: fund research, build a community and, ultimately, find a cure.”

For more information, visit mvasociety.org.