Even as the world awaits a vaccine to tackle the global pandemic instigated by the novel coronavirus, there are over 22,000 known medical conditions many of which are treatable with drugs, devices, biologics, or other therapies. About 7000-9000 of these conditions are considered rare disorders because taken one at a time, they affect fewer than 200,000 Americans. About 80% of these diseases are genetic in origin, 50% of them affect children and 30% of them do not live to see their 5th birthday. Taken together, rare diseases affect an estimated 350 Million people worldwide. That’s approximately the same number of patients living with Diabetes worldwide. However, a majority of these rare diseases continue to be neglected and most countries are yet to recognize them as a public health concern. After losing my own child to one such rare congenital disease in 2012, I decided to apply my years of postdoctoral R&D experience at the National Institutes of Health and startups towards accelerating clinical research, as 95% of rare diseases and the millions of people who have them remain undiagnosed or without any treatment options. I became a social entrepreneur.
Learning about the world of rare disease patient advocacy originating in the 1980s with the U.S. Orphan Drug Act (ODA), National Organization for Rare Disorders, Global Genes, Every Life Foundation for Rare Diseases, EURORDIS, and the NIH office of rare disease research, it also pointed the obvious lack of awareness, education, policy frameworks, or investments in India and among the Indian diaspora globally. Even the generally educated population misunderstand genetic diseases, consanguineous marriages, and social stigma. Within a short period of time, I reached out to hundreds of stakeholders of rare diseases in India and brought together a team of co-founders to form the national umbrella organization for rare disorders for India. The results of this research were published in Cambridge journal Genetics Research and set the roadmap for the Organization for Rare Diseases India. While I served as co-founder and co-chair of the organization from 2013 until Nov 2019, national and international visibility and awareness was raised about the millions of people living with rare or undiagnosed diseases in India, leading to the convergence of global leaders in this space at the 7th undiagnosed diseases network international conference at New Delhi, IN.
Realizing that over 98% of global clinical research happens outside of India, with a majority Biotechnology investment in the US, I founded the Indo-US Organization for Rare Diseases to build collaborative bridges between the various stakeholders in the US and India. There are over 600 orphan drugs approved so far by the US FDA in the last 37 years whereas only 3 orphan therapies could be traced to Indian origin during the same period. As a result, Indian diaspora worldwide rely almost entirely on orphan therapies approved by FDA or EMA. Hence, informing the Indian diaspora about global clinical research as a care option will lead to significant acceleration while helping individual patients gain access to innovative new therapies decades before they are approved and become affordable. Including Biotechnology, gene therapies, and orphan drugs as a focus area in the US-India bi-lateral relationship can play a critical role in achieving acceleration of clinical research leading to affordable therapies for thousands of rare diseases that remain without any FDA approved treatments. My hope is to see that the rare disease community can collaboratively achieve routine approval of orphan drugs for simultaneous commercialization in the USA and India at price points that are affordable to all patients who need them. IndoUSrare is seeking community engagement, partnerships, and collaborations with all stakeholders to realize the vision at IndoUSrare (www.indousrare.org).
Despite significant advances in digital health technologies, travel and logistical burdens associated with participating in clinical research have long remained unsolved. To address this gap and drive the adoption of remote touchless patient recruitment and faster data collection, we developed a cloud-based software platform that works on any of the patient’s mobile devices. The clinical research industry has been slow to adopt mobile and digital health technologies to optimize trial operations. COVID-19 created an urgent need for conducting touchless recruitment, remote monitoring, and flexible hybrid decentralized clinical trials. Jeeva is offering free 30-day trial licenses to support clinical researchers, coordinators, academic medical centers, hospital systems, and patient groups planning their upcoming trials at Jeeva Trials (www.jeevatrials.com/solutions).
Harsha Rajasimha is a rare disease social entrepreneur globally recognized for his work in genomics data science, persistent advocacy, and technology innovations addressing grand challenges facing the estimated 350 Million people suffering from rare diseases world-wide. Harsha earned his bachelor’s degree in computer science and engineering from Bangalore University, a master’s degree in computer science and a doctorate in the interdisciplinary program genetics, bioinformatics, and computational biology from Virginia Tech. He can be reached on LinkedIn, Twitter, and Facebook.