Overview

On World Rare Disease Day 2025, join Dr Mahesh Hampe, Senior Clinical Biochemist at Medgenome as he highlights the life-saving potential of early diagnosis and treatment for rare diseases. In this compelling presentation, he explains how, although each condition may be rare, their combined impact poses a significant health burden.

Dr Mahesh uses examples like biotin deficiency and galactosemia to show the risks of irreversible damage or death when these conditions go undetected. He also emphasizes the crucial role of newborn screening programs—guided by recommendations from the American College of Medical Genetics—in identifying and managing these disorders early on.

With advancements in technology such as LCMS and HLC, screening has evolved to include more conditions, paving the way for timely intervention and improved outcomes. Don't miss this essential discussion on transforming rare disease care and saving lives.

Speakers

Dr Mahesh Hampe

Dr Mahesh Hampe is a Senior Clinical Biochemist at MedGenome, Bangalore, with an MD and DNB in Clinical Biochemistry. He has over 14 years of research experience, particularly in Mass Spectrometric techniques for diagnostics and therapeutics. Dr Hampe is recognized for his contributions to lab medicine, having developed processes for screening inherited metabolic disorders. A recipient of the Brigadier Dr Ramesh Sinha Memorial Young Scientist Award and the Young Achiever in Biochemistry award, he has published extensively in national and international journals. As a NABL Lead and Technical Assessor, Dr Hampe is also a sought-after trainer in Biochemical Genetics, frequently presenting on Human Metabolomics at national conferences.