Spotlight on research at RCSI

I am involved in three major areas of clinical research. The first involves the identification of inherited forms of kidney disease. Twenty years ago I started a project while in Duke University, USA, which I have continued in collaboration with them, but also established here in Dublin. It is apparent that many forms of kidney disease, while initially thought to be ‘sporadic’, are in fact of a hereditary nature. We initially started collecting large families where individuals had kidney disease that ran in the families, and by collecting these families we were able to identify – in collaboration with superb molecular genetics in Duke University and Prof. Gianpiero Cavalleri at the RSCI – specific genes, some of them novel genes never before described, associated with the cause of kidney failure. This has become very important in the era of live donor transplantation, because it is essential that we do not take a kidney from somebody who may have the underlying disease themselves. Understanding the gene that causes kidney failure also allows us to have a better understanding of the mechanism of disease and, therefore, to develop treatments to try and ameliorate it. In the last seven or eight years the sequencing of genes has become much simpler utilising next-generation sequencing (NGS) and using this technology we can now undertake a whole exome sequence, enabling us to apply a molecular diagnosis to more than half the patients that we have studied.