The overarching research programme that we pursue is to seek a deeper understanding of the genetic determinants that underlie malformations in children.
Approximately 3% of children are born with some kind of structural imperfection that impairs their health and/or requires significant medical intervention. Some of these occurrences can be readily ascribed to a known genetic or environmental cause, but for the vast majority the reason for their occurrence is unknown.
In order to solve some of these mysteries we endeavour to find the genetic changes (mutations) that underlie relatively rare, but strongly genetic, forms of malformations. Once identified, we undertake a variety of functional and genetic approaches to understand the mechanisms by which these mutated genes cause diseases.
- Disorders caused by mutations in the gene FLNA – the otopalatodigital syndrome spectrum disorders
- Disorders caused by mutations in FLNB – the Larsen syndrome-atelosteogenesis spectrum
- WNT signaling, skeletal development and cancer
- Brain development – periventricular neuronal heterotopia
- Skeletal development – characterisation of new disease genes
- Biliary atresia