Research Projects

The overarching research programme that is pursued within the Clinical Genetics Laboratory 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 its occurrence is unknown. The approach to solving some of these mysteries taken by the Group is to endeavour to find the genetic changes (mutations) that underlying relatively rare, but strongly genetic, forms of malformations. Once identified, members of the Group adopt a variety of functional and genetic approaches to understand the mechanism that links these mutated genes to the diseases that result.

• 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
• Periventricular nodular heterotopia
• Characterisation of New Disease Genes
• Other X linked multiple malformation conditions
• De Barsy syndrome
• Ethics