Groundbreaking Discovery in Pharmacogenomics!

 

BIG BREAKING NEWS 🎊🎊 – A Groundbreaking Discovery in Pharmacogenomics!



First Report on Genetic Polymorphism rs2257212 and Its Role in Colistin-Induced Nephrotoxicity

We are thrilled to announce an extraordinary breakthrough in medical genetics! 🎉

Dr. Sumith Mathew, with the technical support of Dr. C. C. Cleetus, has achieved a milestone in precision medicine by identifying a novel association between genetic polymorphisms and colistin-induced nephrotoxicity. Their study, published under PMC10933594, marks the first-ever report on the role of two key genetic polymorphisms—rs2257212 and rs13397109—in the context of nephrotoxicity caused by colistin, a last-resort antibiotic used to treat multidrug-resistant infections.

Key Findings of the Study

🔬 Among the two polymorphisms studied, rs2257212, located in the SLC15A2 gene, exhibited a stronger correlation with nephrotoxicity. This gene encodes the PEPT2 (solute carrier family 15 member 2) protein, which plays a crucial role in renal transport.

🧬 The rs2257212 variant involves a Cytosine (C) to Guanine (G) substitution at position 1048, which may impact PEPT2 function, potentially leading to increased intracellular accumulation of colistin in renal cells, thereby exacerbating toxicity.

Advanced Genomic Approach: Next-Generation Sequencing (NGS)

To identify this groundbreaking association, Dr. Sumith Mathew employed Next-Generation Sequencing (NGS) at Christian Medical College (CMC). This cutting-edge technology enabled high-precision detection of genetic variations, paving the way for personalized medicine approaches in critical care pharmacotherapy.

Towards Clinical Translation: Developing a PCR-Based Detection Assay

To bridge the gap between research and clinical application, Dr. Sumith Mathew initiated efforts to develop a PCR-based protocol for detecting the rs2257212 polymorphism.

🔍 Since this is the first-ever study on rs2257212, no established PCR assay for its detection exists, and primer sequences are unavailable in scientific literature.

To address this challenge, the team collaborated with Dr. Selvakumar from Heleni Biomolecules, Chennai, a renowned expert in bioinformatics-based primer design. With his expertise, a custom-made PCR detection kit was developed.

Validation and Future Prospects

✅ The research team is currently validating this PCR-based assay using additional samples pre-classified as variant-positive and variant-negative to confirm its accuracy and reliability.

🚀 This discovery paves the way for personalized drug dosing and genetic screening in patients receiving colistin therapy, potentially preventing life-threatening nephrotoxicity.

A New Era in Precision Medicine!

This groundbreaking work represents a significant leap in the fields of pharmacogenomics, nephrotoxic drug monitoring, and precision medicine. The identification of rs2257212 as a key player in colistin-induced renal toxicity could redefine clinical protocols and improve patient safety worldwide.

🔥 Stay tuned for more updates as this research progresses! 🔥

#MedicalBreakthrough #Genetics #Pharmacogenomics #Nephrotoxicity #Colistin #PrecisionMedicine #BigNews #NGS #PCR #RenalHealth #MolecularBiology

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