Rare Disease Day 2017 addresses growing concern of rare disease patients

Research, the focus of Rare Disease Day 2017, addresses the growing number of rare disease patients and the challenges they continue to face, says the Indian Society for Clinical Research (ISCR). There are an estimated 70 million rare disease patients in India and 350 million worldwide and this year’s slogan ‘With research, possibilities are limitless’ is a call to action to all 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.

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Noting the significance of research as the theme for Rare Disease Day, Suneela Thatte, President, Indian Society for Clinical Research (ISCR) said, "We need more research in India to address the unique needs of rare disease patients. The challenges pertaining to the diagnosis and treatment of rare diseases are manifold. Lack of awareness and scientific knowledge in rare diseases often leads to misdiagnosis or late diagnosis and delayed treatment. There are still no known cures for majority of rare diseases and treatments costs are extremely high, more so in India. Clinical research will help us find better and more effective treatment for rare diseases."

Rare Disease Day 2017 is an opportunity to call upon researchers, universities, students, companies, policy makers and clinicians to do more research and to make them aware of the importance of research for the rare disease community.

There are 7000 known rare diseases today, most of which are progressive, life-threatening, and chronically debiting conditions. 80 percent of the rare diseases have a genetic origin and 50 per cent of rare diseases affect children, most of whom do not live beyond five years. There are many unidentified rare diseases with more and more rare diseases being discovered each year, which makes it difficult to know the exact number of patients living with rare diseases world over.

"Rare disease patient communities need to come together on a common platform. We need to create more awareness about rare diseases and impress upon the government the need to focus on an Orphan Drug Policy for rare diseases," said Prasanna Shirol, Co-Founder, Organisation for Rare Diseases India (ORDI) and father of a patient with Pompe Disease. ORDI recently held a public event Race for 7 to raise awareness for rare diseases. "Rare disease patients often go through life ignorant of their condition and even when diagnosed, there are more questions than answers to the challenges they face."