I am interested in rare inherited human diseases and believe that by investigating the genetic causes of these diseases we will gain insights into novel developmental and disease processes. My primary focus is understanding the pathological mechanisms that underlie early-onset bladder disease. To this end I use a battery of molecular, physiological and imaging techqniues in disease models. I developed whole-bladder tissue imaging to analyse muscle and nerve patterning, and this revealed how the bladder is innervated in unprecedented detail. Furthermore, I have established a unique myograph-based system to analyse neurogenic and myogenic bladder function. We used this system to understand the tissue basis of the devastating bladder disease urofacial syndrome, and the technique also serves as a highly sensitive readout of pathogenic amelioration in treated animals. I am interested more broadly in genetic diseases and closely collaborate with experts in Genomic Medicine to study a wide range of rare diseases.
Bladder myograph physiology
Whole tissue fluorescent imaging
Antibody based techniques: western blotting, immunohistochemstry and immunofluorscence on sectioned tissue and whole tissue samples.
Molecular biology: RNASeq and qPCR, vector cloning, transfections and protein overexpression.
Xenopus tropicalis microinjection and morpholino transcript knock down.
Heparanase in vitro assays.
In vitro proteome signalling arrays.