Current status of research in rare genetic disorders and drug discovery in India

Current status of research in rare genetic disorders and drug discovery in India 11The major health agenda of India so far has prioritized infectious diseases and public health.Given the socioeconomic conditions and poverty, a large fraction of the Indian population is exposed to infections from different pathogens, most notably enteric, parasitic, mycobacterial, and viral.In recent years, however, there has been a decline in the spread of these diseases with better surveillance, availability of therapy, improvement of socioeconomic conditions, and education.It is now being realized that non-communicable diseases are reaching epidemic proportions in India and there is a greater emphasis on the diagnosis and management of these diseases.The proportion of deaths due to non-communicable diseases has gone up substantially and was found to be about 61.8% of all deaths in 2016 (https://www.wbhealth.gov.in/NCD/)The four major categories of these diseases are cardiovascular, chronic respiratory, diabetes, and cancer, some of which share common risk factors including behaviour related to lifestyle.There has been a shift in Government policy to give more importance to preventing and managing non-communicable diseases.Programs with a definite budget allocation have been launched by the Ministry of Health and Family Welfare (MoHFW) (National Health Mission 2023) for control of these diseases.While these initiatives are laudable, they tend to include only the more commonly known non-communicable diseases.Relatively rare diseases, most of which have a genetic origin, have not found a place in these programs.In recent years, India is witnessing a gradual increase in awareness of rare genetic disorders, and these diseases are coming to the attention of scientists, clinicians, and policymakers.It is becoming clear that these diseases are not as rare as generally perceived, and the collective burden of all rare diseases among the Indian population is substantial.Moreover, therapies are not available for the treatment of more than 95% of these diseases.Unfortunately, most of the available therapies are priced much above the purchasing power of Indians, partly because their development and production are done outside the country, and the intellectual property for the new technology platforms, that is the basis of some of these novel therapeutics, is owned by international pharmaceutical companies.Broadly, mutations in about 2900 genes have been attributed to about 7300 genetic disorders, most of which are individually rare in nature.Studying rare genetic disorders can improve our understanding of the relationship between gene function and physiology.These natural genetic variants are a powerful resource that provide immense opportunities for scientists to understand basic biology through a genotype-phenotype correlation.In a recent meeting organized to understand the level of research on these diseases (Rare Genetic Diseases Research Summit 2023) it became clear that a significant number of scientists and clinicians in India are working on rare genetic diseases.However, the research is being carried out in a scattered way spread across the country.It is important to document the research in the form of a single volume that can be a useful reflection of the progress made, to understand the gap areas, and to plan future research directions in this country.This special issue has been launched to showcase some of the major rare disease research efforts in India.It should also help in increasing awareness about this vast area of research with high level of opportunities for translation.