Abstract

Rare Diseases (RDs), also referred to as orphan diseases, are illnesses that only afflict a tiny portion of the general population. Although these conditions are uncommon on their own, they affect a sizable population globally when combined. Patients, their families, and the healthcare system have particular difficulties when dealing with rare diseases. RDs encompass infectious tropical diseases, degenerative diseases, rare malignancies, and genetic disorders. Due to the multitude of country-specific definitions of RD, there is currently no widely agreed description of what an RD is. Given that RD typically affects 6-8% of the population in any given nation, even a conservative estimate for India’s 1.4 billion inhabitants would come out to be approximately 90 million. Scientists, activists, decision-makers and non-profit organizations have worked very hard in the last few decades to address the primary issues surrounding RDs, from treatments to diagnostics. Despite their best efforts, unfortunately, only a tiny percentage of RDs have access to effective treatments at this time. However, the speed at which genomic sequencing technology and international data exchange have developed has accelerated the field of precision medicine. This has sped up the identification of new RDs and made it simpler to evaluate genetic heterogeneity in RDs that may affect the severity of the disease and the response of the patient to particular pharmaceutical therapies. While the field of orphan drug development has advanced significantly, much more work needs to be done to guarantee equitable use of genetic therapies. To improve our understanding and treatment of RDs, cooperation between pharmaceutical companies, researchers, and healthcare providers is crucial. We can work to enhance the lives of people impacted by RDs by raising awareness, supporting inclusivity, and encouraging research.