World Rare Disease Day 2025: Key Facts, Challenges & Advances in Diagnosis Ft. Dr Mahesh Hampe, Medgenome

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.