April 10, 2024Professor Santosh Varughese is one of five medical specialists from Christian Medical College (CMC) Vellore, India, awarded a scholarship by the University of Melbourne to pursue a PhD study. He has chosen to collaborate with Professor Judy Savige, the Head of Medical Unit 3 at Northern Health, to delve into the genetics of atypical forms of Polycystic Kidney Disease (PKD). Professor Varughese, is the Director of Nephrology at CMC Vellore. It is also where he did all his medical studies –including specialising in Nephrology. He received training at the University of Toronto and the Renal Unit of Toronto General Hospital.
CMC Vellore has made significant contributions to India, including establishing the country’s first College of Nursing and pioneering groundbreaking achievements such as the world’s first reconstructive surgery for leprosy, as well as performing the first successful open-heart surgery, dialysis, kidney transplant, and bone marrow transplantation in India.
Professor Judy Savige, a renowned renal and general physician with expertise in kidney genetics, has been ranked number one in the world for her publications on Alport Syndrome, the most common genetic kidney disease.
According to Professor Varughese, atypical polycystic kidney disease is a less well-known group of cystic kidney diseases, and understanding its genetics is an ongoing endeavor. “Atypical PKD exhibits unusual radiological forms, and researchers are increasingly recognising its genetic aspects,” he says.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a progressive genetic disorder characterized by the growth of fluid-filled cysts in the kidneys. Symptoms may not be noticeable until the cysts reach a certain size, and early diagnosis and management are crucial for better outcomes.
Professor Varughese explains that typical ADPKD requires treatment with expensive medications like vasopressin antagonists, which can have adverse effects, especially on the liver. “However, most atypical PKD progresses slowly and does not currently require these medications. Confirming the diagnosis of atypical PKD in suspected cases can help avoid unnecessary medication.”
Studying the genetics of atypical PKD not only provides accurate diagnoses and personalized treatment options for patients but also contributes to scientific advancements in PKD management.
Professor Varughese says, “Working with Northern Health under the tutelage of Prof. Savige has been quite exciting.” They have been actively recruiting patients for the study, collecting blood samples, and taking retinal photographs. He hopes this work will expand our knowledge of atypical PKD and serve as a basis for future studies in PKD.
Professor Savige agrees and adds, “We are privileged to have Professor Varughese working with us at Northern Health.”
Picture shows Professor Varughese with a former patient of his from CMC Vellore – he now attends Northern Health.
