Clinicians and researchers from around the world will meet
at Great Ormond Street Hospital (GOSH) to help plug knowledge gaps around one
of the world’s rarest syndromes.
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, instead of the usual 46, which may cause growth and developmental differences,
learning disabilities and an increased risk of certain cancers.
The first MVA Research Conference, hosted by the MVA Society,
takes place September 17.
With such a small 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, who had contracted a rare form of liver cancer, had MVA and another rare genetic condition.
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.”
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 share her
experience of building a pathway towards treatment for another ultra-rare
genetic condition where none previously existed, giving an example
of what can be achieved from scratch.
Expert 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.
Written By
James Lancaster
AMI editor James
Lancaster is a familiar face in the meetings industry and international
association community. Since joining AMI in 2010, he has gained a reputation
for asking difficult questions and getting lost in convention centres. Proofer, podcaster, and panellist - in his spare time, James likes to walk,
read, listen to music, and drink beer.
