There are 7,000 known rare diseases yet treatment is available for only around 500 of them. Research, the focus of Rare Disease Day 2017, cannot be more timely and appropriate given 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.

There are 70 million rare disease patients in India and 350 million rare disease patients worldwide. If all the rare disease patients in the world came together, they would account for the third most populous country. 80% of rare diseases are genetic in origin and 30% of children with rare diseases will not see beyond their fifth birthday• the startling fact is that 95% of rare diseases do not have a single FDA approved treatment.

Noting the significance of research as the theme for Rare Disease Day, Suneela Thatte, President of the 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 disease.” 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 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.”

Research can lead to the identification of previously unknown diseases, can increase our understanding of diseases, can enable doctors to give a 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.
 
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.

The Indian Society for Clinical Research (ISCR) is an association of clinical research professionals that aims to build awareness of clinical research as a specialty in India and to facilitate its growth in the country while helping to evolve the highest standards of quality and ethics.