Abstract Rare genetic diseases presently impose substantial challenges to the world healthcare system.These fatal disorders affecting considerable number of population all over the world. India is a diverse country with multiple communities, religions, and traditions which have co-existed for centuries and due to high migration rate as well as interracial marriage system, the mutant alleles responsible for different genetic diseases have spread during time periods. Since the background of the genetic diseases is constantly changing, it is important to point out newly arrived genetic diseases. There is scanty report available on real research and health related policies associated with the rare genetic diseases. The limited clinical information and lack of proper reliable epidemiological data make the timely diagnosis and therapeutic approach more difficult. Relevant research is meager in developing countries that make it really challenging to estimate the exact burden of the rare genetic diseases. Moreover, there are many suspected cases where the diagnosis is not possible due to lack of appropriate diagnostic facility and clinical resources in this region which in turn causes tremendous psycho-socio-economic stigma and suffer life-long illness. In recent days, emerging Next- Generation DNA Sequencing (NGS) technology have enhanced our knowledge regarding the patho-physiological understandings to overcome the ignored health issues. In this review, the major challenges and obstacles associated with rare diseases in India together with highlighted and the methods for conducting successful molecular genetic studies in the field of diagnosis and treatment. Under this context, it is essential to take steps for tracking these diseases in holistic and comprehensive manner.
Panja et al. (Wed,) studied this question.