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

Published On 2025-02-28T11:30:46+05:30 | Updated On 28 Feb 2025 11:30 AM IST

Overview

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?

Speakers

Dr. Nandita Mohan

Dr. Nandita Mohan is a practicing pediatric dentist with more than 5 years of clinical work experience. Along with this, she is equally interested in keeping herself up to date about the latest developments in the field of medicine and dentistry which is the driving force for her to be in association with Medical Dialogues. She also has her name attached with many publications; both national and international. She has pursued her BDS from Rajiv Gandhi University of Health Sciences, Bangalore and later went to enter her dream specialty (MDS) in the Department of Pedodontics and Preventive Dentistry from Pt. B.D. Sharma University of Health Sciences. Through all the years of experience, her core interest in learning something new has never stopped. She can be contacted at editorial@medicaldialogues.in. Contact no. 011-43720751

Dr Neerja Gupta

Dr Neerja Gupta (MD Pediatrics, DM Medical Genetics) is the Additional Professor, Division of Genetics, Department of Pediatrics at the All India Institute of Medical Sciences, New Delhi. She has been honored with the Dr. IC Verma Outstanding Researcher Award 2024 and the 8th Dr. I.C. Verma Excellence in Research Award for Young Pediatricians 2020, and is the recipient of the Clinical Genetics Society Fellowship (UK, 2012). Dr Gupta serves as the nodal officer for the Centre of Excellence on Rare Disorders at AIIMS, New Delhi under MoHFW (2022) and is the Coordinator for the Quality Assurance WHO Birth Defect Surveillance Program across SEAR. She is also a member of the Undiagnosed Disease Network (NIH), the Secretary of the Society of Indian Academy of Medical Genetics (2024–2026), and the Treasurer of the Indian Society of Inborn Errors of Metabolism (2024–2026). Her contributions extend to working with the Burden of Birth Defects Technical Working Group, serving as a panel expert for the Global Network for Rare Diseases Update (2021–2022), and contributing to the development of the online educational tool GENETOP, SIAMG. Her research interests include inherited metabolic disorders, lysosomal storage disorders, genomics of intellectual disability, skeletal dysplasia, arthrogryposis, dysmorphic syndromes, and fetal autopsy, and she has authored over 212 publications.

Prasanna Shirol

Mr. Prasanna Shirol is the Co-founder & Director of ORDI (Organisation for Rare Diseases in India) and a prominent advocate for rare disorders with over 11 years of national-level experience. He serves as a Member (Lay Person) on the Central Ethics Committee on Human Research at ICMR, New Delhi, and is a key figure in several advisory councils, including the Global Patient Advisory Council for Rare Diseases and Parexel’s Patient Advisory Council for India. His contributions have earned him accolades like the Rare Champion of Hope Award (2019) from Global Gene. A pioneer in rare disease awareness, Mr. Shirol co-founded the first national support group for ultra-rare diseases (LSDSS India) and initiated India’s national observance of International Rare Disease Day in 2010. He also launched the Pompe Foundation in India to empower patients and families affected by Pompe disease. Under his leadership, ORDI established India’s first nationwide Rare Disease Helpline (+91 8892 555 000) and the Rare Disease Care Coordination Centre in Bangalore, connecting patients with healthcare providers, diagnostic centres, and treatment options.