World Rare Disease Day: Key Challenges & Developments decoded with Prasanna Shirol, ORDI & Dr Neerja Gupta, AIIMS

Rare diseases may be uncommon, but their impact on individuals, families, and communities is profound. Since 2008, Rare Disease Day has been observed globally on February 28 (or February 29 in leap years) to raise awareness among policymakers and the public about rare diseases and their impact on patients' lives. 

This global campaign highlights the challenges faced by individuals with rare diseases and their families while celebrating their strength, resilience, and courage. Today, we are conducting a panel discussion on rare disease awareness, where esteemed experts will share insights on the challenges, advancements, and policy initiatives needed to support those affected by rare diseases.  

Join us for an insightful discussion featuring:

🔹 Prasanna Shirol – Rare Disease Advocate, Co-founder & Director, ORDI 

🔹 Dr. Neerja Gupta – Additional Professor, Division of Genetics, Department of Pediatrics, AIIMS, New Delhi

Following are the questions discussed in the video: 

1. What are some of the most significant challenges faced in diagnosing rare diseases? 

2. India is a vast country. Amid rare diseases, which ones are relatively more often encountered in India?

3. How can genetic testing, advancements in genomics, and newer diagnostic tools improve the diagnosis and treatment of rare diseases? 

4. Are there any recent breakthroughs in the treatment of rare diseases that you’re particularly excited about? 

5. How can healthcare systems better support patients with rare diseases and their families?

6. What can be done to raise awareness about rare diseases among the general public and medical professionals?

7. How can patients and caregivers get involved in clinical trials and research for rare diseases? 

8. What are the biggest misconceptions about rare diseases that you wish to dispel? 

9. How do you see the future of rare disease treatment evolving in the next decade? 

10. What support resources are available for patients and families dealing with rare diseases?