Need more research on rare diseases: Experts

CHENNAI: A large number of people, mainly children, suffer from rare diseases that are more than 7,000 in number. However, treatment for the same remains out of reach as there is a lack of research on most of them.

With Rare Disease Day approaching, the Indian Society for Clinical Research (ISCR), an association of clinical research professionals, has asked all research stakeholders to invest in research across the spectrum so that rare disease patients and their caregivers can look forward to a better quality of life.

According to ISCR president Chirag Trivedi, the available data state one in 20 people will live with a rare disease at some point. “The large number of rare disease patients living without access to treatment and management of their conditions either because of lack of awareness, lack of appropriate diagnosis or lack of treatment options should be a wake-up call for the clinical research community,” he said.

Researchers opine that more academic evidence can lead to the identification of previously unknown diseases, increase our understanding, enable doctors to provide correct diagnosis, lead to the development of new innovative treatments and possibly even a cure, reduce costs for healthcare systems, and improve the quality of life of patients and their families.

A large number of children with rare diseases are awaiting treatment at the Institute of Child Health as the cost of drugs and medication are not affordable for many. “More research will help in identifying different modes of treatment available for children suffering from rare diseases. Many children await treatment for rare diseases for all their life, “said Dr S Srinivasan, State Neonatal Intensive Care Unit Coordinator.