Research Projects

Rare diseases affect a small number of people worldwide, making pharmaceutical companies less interested in developing drugs for them. High cost and low availability make most rare disease drugs unaffordable for many patients worldwide. In India, most rare disease drugs are imported from outside the country, adding additional time and cost to the drug. Efficient strategies against rare disease drugs are urgently needed to help numerous people worldwide. Around 6000-8000 rare diseases exist globally, but 80 of all rare disease patients are affected by approximately 350 diseases caused by inherited gene mutations, insertions, or deletions of single genes. Treatment options include small molecules-based treatment, antisense oligonucleotides (ASO), or enzyme replacements (ERD). However, exorbitant treatment costs make most of these options unavailable to a large number of populations. To develop efficient strategies against rare disease drugs, a multi-institutional effort with the involvement of academic research institutes, clinicians, and industry partners is proposed. The plan includes developing processes for the antisense oligonucleotide drug Eteplirsen exondys-51, the small molecule drug Eliglustat, the small molecule drug miglustat or migulastat, the drugs Tezacaftor and Elexacaftor, the anti-SLE drug candidate Lenabasum, and the efficient production of the recombinant enzyme alpha-galactosidase. This approach could make the drugs affordable and comply with the guidelines of the National Policy for Rare Diseases (NPRD).