After having announced that it would dedicate its sponsorship to the cause, the LifeCycle Malta Foundation is donating the sum of €25,000 to the University of Malta’s Research, Innovation & Development Trust (RIDT) for its research into polycystic kidney disease (PKD).
LifeCycle Malta Chairperson, Dr Shirley Cefai, called this sponsorship a considerable team effort despite the challenging times, and thanked Nestlé Malta for making it possible.
The research, titled ‘Genotype-Phenotype of Autosomal Dominant Polycystic Kidney disease in Malta’, aims to provide a genetic diagnosis to patients with ADPKD in Malta, and is being conducted by the UM’s Anatomy and Cell Biology Department in collaboration with the Departments of Medicine and Pathology at Mater Dei Hospital.
Prof. Jean Calleja Agius, Prof. Emanuel Farrugia, Dr Edith Said, Dr Graziella Zahra, Dr Christopher Barbara and Ms Nathalie Bonello are leading the study.
Dr Said highlighted the interdisciplinarity of this research project, and said that with researchers having identified several genes essential in PKD for analysis and compiled customised gene panels, the research will, over a period of three years, investigate the cases of most families with ADPKD in Malta.
PKD is an inherited disorder of cyst clusters developing primarily within the kidneys, causing the kidneys to enlarge and lose function over time. The symptoms of the disease may be severe during childhood and adolescence and mild in later stages of life. Clinical presentation and progression of the disease can both be very variable. PKD can be inherited in a dominant (ADPKD) or recessive (ARPDK) manner.
Recruitment for the study is ongoing. 35 individuals with ADPKD have consented to participate in the study. The results of the first 16 individuals, on whom a next-generation sequencing genetic analysis was conducted have identified a rare pathogenic mutation in 4 patients and another rare pathogenic mutation in another.
All recruited individuals will be tested using the customised gene panel, and people who test negative will then go under a more extensive genetic investigation to identify novel genes in patients with ADPKD. The patients have so far been diagnosed clinically, which will allow for the identification of individuals in the families at risk of developing PKD and enable correct and timely surveillance.
University of Malta Rector, Prof. Alfred J. Vella, who was also present at this donation, talked about this being an excellent example of the University’s service to society through its research mission, while RIDT CEO, Mr Wilfred Kenely, who was instrumental in securing this sponsorship, expressed his gratitude at how all entities came together to help bring more knowledge to light on this disease, saying the solution is in the science.
Donations to LifeCycle Malta Foundation can be made by Revolut on 99329101, by PayPal online and via SMS on 5061 7370 = €2.33, 5061 8920 = €6.99, 5061 9229 = €11.65, or via a call to 5160 2020 = €10, 5170 2005 = €15 and 5180 2006 = €25.