Episode #56- Part 01 | Pompe Disease in India Recognizing the Signs and Closing the Diagnostic gap

In this special edition of the Rare Info Series by ORDI, Episode #56 – Part 01 brings expert insights into Pompe Disease in India with a focus on early recognition and diagnostic challenges. 🎤 Speaker 01: Dr. Ratna Dua Puri Senior Consultant & Chairperson, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital Topic: From gene to phenotype – understanding the biology and spectrum of Pompe disease 🎤 Speaker 02: Dr. Ashwin Dalal Head, Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics (CDFD) Topic: Diagnostic challenges and genetic counselling in Pompe disease This session highlights the importance of understanding genetic variations, improving early diagnosis, and addressing the gaps in identifying rare diseases like Pompe in India. 📌 Stay tuned for more expert discussions in this series. #PompeDisease #RareDiseaseIndia #GeneticDisorders #ORDI #MedicalGenetics #RareInfoSeries #HealthcareIndia