eBiDS: early Brain imaging in Down Syndrome
Every year approximately 750 babies in the UK are born with Down Syndrome (DS) which occurs due to an extra copy of chromosome 21. This impairs neurodevelopment making DS the most common genetic cause of intellectual disability.
There are currently no treatments for modifying or preventing these learning disabilities, with relatively little known about how DS actually alters the way the brain grows and develops.
Deviations from normal brain development have been shown to occur during fetal life. In keeping with this idea, treatments given around the time of birth in mouse models of DS have had promising results. However, before these therapies can be tried in humans we need to understand exactly how DS alters the way the human brain develops.
We are therefore planning to look at how the brain develops in fetuses and babies with DS using magnetic resonance imaging (MRI). The detailed pictures we collect will let us precisely measure not only the growth of the brain, but its structure and function during this crucial period of early life. To understand the underlying cellular changes that are associated with the imaging findings we will also look at specific characteristics of the brain cells of fetuses and babies with DS that have passed away. We will compare these human findings with those from a mouse model of DS.