The Indian Organisation for Rare Diseases (IORD), led by President and CEO Dr. Ramaiah Muthyala, organised an international webinar bringing together government representatives, medical experts, researchers, industry leaders and global health organisations to address the challenges faced by people living with rare diseases. The discussions focused on prevention, genetic screening, early diagnosis, affordable treatments, policy reforms and equitable healthcare. Speakers from India and abroad highlighted the importance of government support, scientific innovation and international collaboration in strengthening rare disease care and improving patients’ quality of life. Watch the presentations and key addresses from the webinar below.
Dr. Ramaiah Muthyala, President and CEO of IORD, addressed the 2021 Rare Disease Prevention Webinar by highlighting the need to prioritise prevention alongside treatment, with a focus on genetic counselling, early diagnosis and prenatal screening. He also called for equitable healthcare access, affordable orphan drugs, stronger policy support and global collaboration to improve the quality of life of people living with rare diseases.
Ms. S. Aparna, IAS, Secretary, Department of Pharmaceuticals, Government of India, highlighted the challenges of rare disease awareness, diagnosis and access to affordable treatment during the IORD webinar. She outlined government initiatives supporting orphan drug development, clinical trials and preventive measures, reaffirming the government’s commitment to improving access, affordability and collaboration with patient organisations.
Dr. Anurag Agrawal, Director of CSIR-IGIB, highlighted India’s genetic diversity and the importance of genomic research, community-based screening and genetic testing in identifying and preventing rare diseases. He emphasised whole-genome sequencing, bioinformatics and initiatives such as IndiGen and Gene Card to advance early diagnosis, preventive strategies and personalised healthcare.
Mr. Lieven Bauwens, Director of Child-Help International, highlighted the challenges faced by individuals with spina bifida and hydrocephalus, emphasising the importance of lifelong care and early prevention. He urged the Indian government to strengthen food fortification with folic acid to reduce neural tube defects, citing evidence that folic acid-fortified staple foods can significantly lower the incidence of these birth defects.
Dr. Gareth Baynam, representing the Government of Western Australia, outlined four pillars of prevention: primary, secondary, tertiary and quaternary, highlighting the role of screening, early diagnosis and coordinated care in reducing the burden of rare diseases. He also emphasised integrating congenital disease prevention into national health programmes, introducing rare disease coding systems and leveraging genomic research and technology to improve diagnosis and patient care in India.
Dr. Rüdiger Krech, Director of Health Promotion at WHO, Geneva, highlighted the importance of pooling resources, international cooperation and innovation to address the challenges of rare diseases. He emphasised equitable healthcare, sustainable funding, multidisciplinary expertise and collaboration in research and drug development, reaffirming WHO’s support for India’s efforts to strengthen rare disease care.
Mr. BR Sikri, Chairman of FOPE, appreciated IORD’s efforts in bringing together national and international experts to address rare disease challenges and advocate equal healthcare rights for patients. He emphasised stronger collaboration between government, pharmaceutical associations, regulators and patient organisations to improve access to treatment and enhance the quality of life of people living with rare diseases.
Indian Organization For Rare Diseases
Registered Office (India):
Plot No. 397, Road No. 22B, Jubilee Hills, Hyderabad – 500033, Telangana, India.
Phone: +91-9666438880
Email: indiaord@gmail.com