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Calling for better health research in India, health experts, including those from the All India of Institute of Medical Sciences (AIIMS), on Wednesday said that innovations in medicine alone can help cure rare diseases. Considering India's population, doctors said that the number of patients suffering from rare diseases was quite significant now. The diseases are usually severe and chronic and it is often difficult to diagnose and treat them due to their complexity, according to them. Although significant progress has been made in new therapies, unfortunately, treatment is available only for five per cent of rare diseases and much work needs to be done in this regard, they felt. "Tremendous progress has been made towards developing new therapies, which has drastically improved patients' quality of life. A greater understanding of the underlying biology of the disease would enable researchers to develop more targeted therapies," said I.C. Verma, Head of Genetic Medicine, Sir Ganga Ram Hospital. According to Verma, the need of the hour is continued research for newer drugs and treatment methods that can provide greater relief to patients with rare diseases. Mentioning new therapies that have helped patients, Verma said Enzyme Replacement Therapy (ERT) had proved to be very successful for the treatment of a missing enzyme in the body that causes diseases like Gaucher, Pompe, Fabry, etc.
"More recently, a therapy called Substrate Reduction Therapy (SRT) is being used which helps the body produce fewer substrates so that less is accumulated in the cells. More therapies like this are needed which can enable patients to more effectively manage rare diseases," he said. Madhulika Kabra, Additional Professor at Pediatrics Department's Genetics unit of AIIMS, said that rare diseases were complex and their underlying biological mechanisms were not adequately understood by many. Stating that a small patient population made it difficult to conduct clinical studies and thereby establish efficacy and safety of a particular treatment, Kabra said: "Going beyond symptom management and combating the root cause of a rare disease is essential." Considering the high cost of new therapies, Sudeep Singh Sachdev, Nephrologist at Max Smart Super Speciality Hospital, called for innovations in existing and new treatment options as they would result in better management of rare diseases. "The development of therapeutic options for rare diseases is challenging. Policy and regulatory interventions for furthering research will play a critical role in overcoming the many challenges in drug development for rare diseases and would provide a ray of hope to the patients and their families."
Prasanna Shirol, co-founder, Organisation for Rare Diseases India, said that developing therapy options for more rare diseases would provide relief to a lot of patients and families. "At present, treatment is available only for a handful of rare diseases and hence, it is important that research is done in the area of other such diseases so that patients suffering from them have an option of leading healthier and active lives," Shirol said. The government also needed to extend its support for a future where drugs and therapies would become more accessible for different rare disease patients, he added.
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