Mr A Ganesan, a PhD student of SRM Medical Research, has been identified as ‘a promising young scientist’ by the Japanese Society of Nephrology, for his work on the CD2AP gene mutation, specifically in children. He is one among the 15 young scientists who was selected from across the globe after a keen competition. Mr. Ganesan was also invited to give a presentation in the 57th Annual Meeting of the Japanese Society of Nephrology held on 3 July 2014 in Yokohama Japan.
The study titled,”SNP detection of CD2AP gene among Steroid Resistant Nephrotic syndrome children by tetra primer ARMS PCR method,” has been mentored by Dr. P. Venkataraman, the guide and Dr. D. Balakrishnan, co-guide from the SRM Medical Research Centre of SRM Medical College as well as by Dr. Mini Jacob, Professor and head of the Experimental Medicine department of the Tamil Nadu Dr. M.G.R. Medical University.
This study targets one of the genes, namely, CD2AP and looks at the Single Nucleotide Polymorphism (SNP) (mutations) of this gene. This study has a great clinical and social relevance, particularly for children affected with Steroid Resistant Nephrotic Syndrome (SRNS).
Nephrotic syndrome is a condition of kidney damage in which large amounts of protein are excreted in the urine. As a result, the albumin level in the blood will become low and the patient develops puffiness in the limbs and the face.
Steroid Resistant Nephrotic Syndrome (SRNS) is a hereditary type of Nephrotic Syndrome in which the condition does not respond to the administration of steroids and persistently worsens to reach End Stage Kidney Disease (ESKD) which has no cure. About 20 percent of children with Nephrotic syndrome develop ESKD.
The SRNS variant occurs due to defective filtration mechanism in the kidney. The filtration mechanism is formed by the three major proteins, namely, Nephrin (NPHS1), Podocin (NPHS2) and CD2AP. Any defect in these proteins causes nephrotic syndrome. The mother to offspring transmission rate in each pregnancy is found to be is 25% to 50%, if the parents are carriers or have defective genes.
A study of the mutations in these three genes can help the clinician to learn whether a particular patient with SRNS will worsen to end stage kidney disease or not. The Japanese Society of Nephrology has recognised this far reaching concept stated through this study. The award is the testimony to this recognition.
The honourable Pro-Vice Chancellor (Medical) of SRM Medical College & Research Centre, Professor P. Thangaraju, also felicitated Mr. Ganesan in the presence of his mentors, Dr. P. Venkataraman (Guide) and Professor D. Balakrishnan (Co guide and Dean Medical Research) on this profound achievement.