No Kidding With the Kidneys

No Kidding With the Kidneys
January 2016 RIDT

Although the kidneys are vital organs, we often overlook their crucial role in our overall health. Here, Dr Valerie Said Conti explains how current renal research being undertaken at the University of Malta could help identify the genetics of a number of rare kidney diseases.


Dr Valerie Said Conti

Most of us have a basic idea of what kidneys do. But considering their indispensable role in our bodies – that of purifying the blood and excreting urine – we often ignore them until something goes wrong. That is a luxury most of us can afford while we’re healthy, but what happens if you’re born with abnormal kidneys or with ones that don’t function properly?

As with many other situations, prevention can be better than cure and, at the University of Malta, a team of researchers, with the collaboration of a number of international organisations, is currently working towards discovering the ‘why’ it happens in order to figure out the ‘how’ to avoid or cure it.

“While this programme is still in its infancy, in the long term, it aims to study the genetics of a number of rare kidney diseases in an attempt to understand why the development of the kidney in the unborn child does not proceed normally,” explains Dr Valerie Said Conti, who, apart from being visiting lecturer at the University of Malta, is also a consultant paediatrician in renal disease at Mater Dei Hospital and a researcher in renal disease at the University of Malta.

During this particular study, researchers will be looking at two things in particular: the first will be a way of identifying what happens inside the womb that may lead to a child being born with abnormal kidneys, “for example, the broad spectrum of congenital anomalies of the kidneys and urinary tract,” adds Dr Valerie. While the second, will be to understand why kidneys could malfunction, “for example, in the congenital nephrotic syndrome, which is an inherited disorder that manifests shortly after birth,” she explains.

It has now been almost a year since this project first kicked off, and like any other of this scope and size, it required quite a bit of planning.

“No research is possible without blood samples, however, so the first step was to procure a collection of blood and urine samples from individuals with renal disorders for the Malta BioBank at the University of Malta,” continues Dr Valerie. “Thankfully, we have been successful in obtaining informed consent from a number of families who have donated blood samples.

“Now, the next step is to analyse the blood samples in the laboratory, and what we’ll be looking for are changes in the genetic material – those which we call mutations – that result in the formation of abnormal proteins that send the wrong messages during the different stages of kidney development,” she explains. “Also, something worth mentioning is that one of the techniques being used during this study is that of whole exon sequencing, which is a fairly recent innovation in looking for defects in the genome [genetic material].”

This research, like so many others currently taking place at the University of Malta, has only been possible thanks to contributions donated towards the Life Cycle Challenge, which, on top of using the funds to improve the management of patients receiving treatment on the renal unit, made funds available for research purposes for the first time.

RIDT played a role in the allocation of these funds, and we look forward to distributing more funds to more projects and to continue fueling breakthroughs through the research currently taking place on our island. In fact, that’s why it’s so vital that you continue to support Malta-based researchers and research.

“Ultimately, the purpose of this research is to understand what causes the defects in the genome that result in kidney disease. The collaboration between researchers at an international level is expected to result in the development of pathways to prevent them from happening and also in the development of medicines to try and control the complications of these disorders. This will result in an improvement in the quality of life of our patients and their families – and why wouldn’t you want to support that?” concludes Dr Valerie.

Why wouldn’t you indeed!

You can be part of this fascinating world of research, too, by helping many others achieve their breakthroughs in all the faculties of the University of Malta. Please click here for more information on how to donate to research of this kind through the Research Trust (RIDT).


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