LifeCycle Challenge


LifeCycle Kidney Research Program

The spectrum of renal diseases is very wide. Kidney problems can present acutely in a previously healthy individual or can present when the problem has been present for a few months or years. With acute presentations the insult may be reversible and the renal function may return to normal. When the renal insufficiency becomes long-term, we use the term ‘chronic kidney disease’ (CKD). The commonest cause of CKD in children is secondary to defects in development of the renal tract before birth which are collectively known as congenital anomalies of the kidney and urinary tract (CAKUT) and include conditions such as multi-cystic dysplastic kidneys, severely refluxing kidneys and obstructed kidneys. Often these defects first present on antenatal ultrasound scans which informs which children will require follow-up postnatally.

Our understanding of the antenatal development of the kidney and renal tract is not yet clear and present research tries to elucidate the complex pathways and interactions involved in an attempt to understand the origin and progression of these congenital defects that can lead to end-stage kidney disease and require renal replacement therapy. Acquiring knowledge of the cause of these defects can result in the development of preventative measures or treatments. Multiple factors are certainly involved and recent advances in biotechnology are making it possible to gather large datasets to understand the interplay of genetics and the environment in the developmental pathways of the kidneys. Such datasets include information on the genetic material and the metabolic pathways involved in the early formation of the kidneys. The integration of the different approaches is expected to generate information that can facilitate diagnosis, inform disease progression and identify preventative and treatment targets.

The University of Malta has joined the international community in contributing to this data. The Kidney Research Programme came to fruition thanks to an initial donation by LifeCycle (Malta) Foundation to the University of Malta Research Trust (RIDT) in 2014 and again in 2017. One of the objectives of the Kidney Research Programme was to establish a quality kidney disease sample collection that would support high-level medical research for the benefit of patients with kidney diseases. The first step has been to acquire biological samples from families of paediatric patients with congenital kidney diseases who generously accept to contribute to the Research Programme. The existing collection includes samples of saliva, blood, plasma, DNA and urine, and is stored at the Malta BioBank. A catalogue of the samples has been created to facilitate collaboration with other biobanks and researchers in the field of nephrology. The second objective was to better understand the causes underlying certain kidney diseases in cases of Maltese origin. Family members of patients with a congenital anomaly are presently undergoing ultrasound assessment of the kidneys to identify any inherited traits (phenotype). Whole genome sequencing has been performed on a number of samples from unrelated patients with CAKUT (genotype) to detect any genetic variations from the reference genome (a representation of the human DNA sequence) that may be a cause for disease expression. These will then be compared with the genotype from other family members. This research data is expected to contribute to the increasing volume of publications in the international literature.

As part of the dissemination activities relating to the Programme, a number of posters were presented at local and international scientific meetings. The research team has also been taking part in the annual Science in the City festival in Valletta since 2015, educating policy makers and the local population in general about the current treatment of patients with kidney failure and the benefits of early prevention when this is possible. Furthermore, the aim of the ongoing kidney disease research at the University of Malta was featured in the edition of ‘The Sunday Times of Malta’ dated 20th. November in an article entitled ‘Tackling kidney disease – towards a new era’.

By Valerie Said Conti and Esther Zammit

October 2017

Leave a Comment

Boxes marked • are mandatory. Your comment will be moderated before being published.