There has been a steady rise in prevalence of common diseases like diabetes, asthma, cardiovascular disorders, epilepsy, stroke, schizophrenia and bipolar disorder in the world. Nearly 1% of the world population suffers from these diseases and in some cases like diabetes and obesity; the numbers are considerably higher and dangerously on the rise. With the increase in average life expectancy of humans, this has become a major concern since most of these common diseases extend throughout life and require long-term medication often associated with added complications and/or expensive interventions. Identifying factors that predispose individuals to these diseases, predict progression as well as for the development of personalized healthcare in order to minimize side-effects is the need of the hour.

In the realm of modern predictive medicine, several approaches are being attempted to identify genetic variations that are responsible for susceptibility to diseases and differential response to drugs. However, even after a decade of human genome sequence, we are still not able to define what constitutes a healthy human. It is being increasingly realized that identification of sub-groups within normal controls corresponding to contrasting disease susceptibility is likely to lead to more effective discovery of predictive markers. There are however no modern methods available to look at inter-individual differences within ethnically matched healthy populations.

Ayurveda, an ancient Indian system of medicine documented and practiced in India has personalized approach towards management of health and disease. According to this system, every individual is born with a basic constitution, termed Prakriti which to a great extent determines inter individual variability towards susceptibility to diseases and response to external environment, diet , drugs and life style- regimen. Prakriti of an individual remains invariant throughout life and is dependent on proportion of three physiological entities called Tridoshas : Vata, Pitta and Kapha. Based on the proportion of Tridoshas, Ayurveda describes seven broad Prakriti types (Vata, Pitta, Kapha ,Vata-Pitta, Pitta-Kapha, Vata-Kapha and Vata-Pitta-Kapha) each with a varying degree of predisposition to different diseases. Amongst these, three most contrasting types – Vata, Pitta, Kapha are the most vulnerable to diseases.

Therefore we hypothesize that an integration of Ayurveda and Genomics – “Ayurgenomics” could bridge the phenotype to genotype gap. At the CSIR’s Ayurgenomics unit “TRISUTRA” we aim to integrate Ayurveda, genomics and modern medicine.

Our study reveals that normal healthy individuals of contrasting Prakriti exhibit striking differences with respect to biochemical and hematological parameters as well as genome wide expression levels. Functional categories of genes showing differential expression among different Prakriti types are significantly enriched in core biological processes like transport, regulation of cell proliferation, immune response and regulation of blood coagulation.

Based on one of the leads from gene expression differences, a genetic marker associated with high altitude adaptation and a high altitude illness, EGLN1 was identified. Ayurgenomics study has provided a novel molecular framework for integration of two contrasting disciplines. This integrative approach is likely to accelerate discovery of markers for predictive, preventive and personalized medicine.