New Delhi: 7000 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.
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.”
Facts About Rare Diseases
- 7000 known rare diseases
- 70 mn rare disease patients in India
- 350 mn rare disease patients worldwide
- If all the rare disease patients in the world came together, they would account for the third most populous country
- Average of 7 years to diagnose a rare disease
- 80% of rare diseases are genetic in origin
- 30% of children with rare diseases will not see beyond their fifth birthday
- 95% of rare diseases do not have a single FDA approved treatment
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 percent 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.”
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.
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