The condition we work on

It affects many systems at once, and no two people are affected in the same way. Features can include differences in how the heart formed, in the palate, in the immune system and in blood calcium; learning difficulties are common, and mental health needs are substantial.(2) Better detection and better care in childhood mean there are now more adults living with the syndrome than at any time before — a population the 2023 international guidelines describe as still largely unrecognised by health services and by society. (2)

Among the conditions those adults meet earlier than expected are obesity and type 2 diabetes. (2)  Even after accounting for family history, ethnicity, medication and obesity, carrying the deletion raises the risk of type 2 diabetes, and it arrives on average eighteen years earlier than would be expected in the general population. (2)

Beyond that, the evidence thins quickly. The same guidelines state that less is known about metabolic syndrome, non-alcoholic fatty liver and other cardiometabolic conditions in 22q11.2 deletion syndrome. (2) A recognised risk, without the evidence base clinicians need to manage it, is where Varex Bio works.