Elucidating molecular signatures of desert adaptation for risk stratification during transition of native and migrants of thar desert for precision medicine.

Ongoing

This DBT-funded project investigates the genetic and molecular basis of adaptation to the extreme Thar Desert environment and examines how migration and lifestyle transitions may influence health and disease risk. The study focuses on identifying molecular signatures associated with desert adaptation and population transitions, with the long-term aim of developing risk stratification approaches for precision medicine.

PI: Prof. Mitali Mukerji and Dr. Pankaj Yadav

Funding Agency: Department of Biotechnology, GOI

Centre of Excellence in Integrative Precision Health under the School of AI & Data Science — AI-enabled frameworks combining Ayurveda, genomics and engineering for evidence-based, early health interventions. (Centre of Excellence for "Ayurtech" for integrative precision health and medicine)

Ongoing

The Ayurtech project, hosted at IIT Jodhpur and funded by the Ministry of AYUSH, is a cutting-edge research initiative aimed at combining traditional Ayurvedic principles with modern technology. The project’s goal is to develop an advanced method for identifying an individual’s Prakriti (natural constitution) and Vikriti (current state of imbalance) using innovative tools and techniques.

What is Prakriti and Vikriti? In Ayurveda, 'prakriti' refers to a person's inherent body constitution, which remains constant throughout life. It's like your natural body type or personality, determined by the balance of three vital energies, or doshas—Vata, Pitta, and Kapha. Vikriti, on the other hand, is your current state of health, which can change over time due to lifestyle, diet, environment, and other factors.

(2022-2025)

Joint Co-ordinator and Principal Investigator : Prof. Mitali Mukerji, Ajay Agarwal

Funding Agency: Ministry Of AYUSH

Thar-ECHOES : Ecological Crowdsourcing from Habitats of Orans for Enabling Sustainability

Ongoing

The Thar-ECHOES project (Ecological Crowdsourcing from Habitats of Orans for Enabling Sustainability) proposes a comprehensive, year-round ecological observation framework to understand the DESIGN principles of Orans and the Prosopis infested habitats using a citizen science approach. By integrating tools such as Foldscope-based microscopy, Winogradsky columns, drone-enabled landscape mapping, and metagenomic profiling with ecological observations, this initiative aims to establish a multi-scale, transdisciplinary lens on habitat sustainability. More importantly, it will cultivate a culture of participatory ecological intelligence among citizens—linking rural communities, school children, and urban youth in a shared mission of environmental stewardship.

PI: Prof. Mitali Mukerji

Funding Agency: ANRF JC BOSE GRANT

IMPACT Project (Invasive pollution Management of Prosopis juliflora in Arid ecoregion using Citizen science in Thar.)

Completed

Invasive pollution Management of Prosopis juliflora in Arid ecoregion using Citizen science in Thar.

The IMPACT (Invasive Pollution Management of Prosopis juliflora in Arid Ecoregions using Citizen Science in Thar) project was undertaken at the Indian Institute of Technology Jodhpur with financial support from HP Inc. Pvt. Ltd. between February 2024 and March 2026. The project aimed to develop an integrated framework for understanding and managing the invasion of Prosopis juliflora in the Thar Desert through ecological research, geospatial technologies, soil microbiome analyses, and community participation.

Thar-DESIGNS (Desert Ecosystem Innovations Guided by Nature and Selection)

Completed

Thar DESIGNS, which explores human adaptation and ecosystem phenomics in the Thar Desert using multi-omic technologies including population genomics, citizen science and ecology.

Thar DESIGNS (Desert Ecosystem Sciences Guided by Nature and Selection) is an initiative of IIT Jodhpur under the Jodhpur City Knowledge and Innovation Cluster, bringing together Medical, Engineering, Environmental, Agricultural, Zoological, Forestry, and Space Sciences to understand, conserve, and restore the unique Thar Desert ecosystem. Using genomics, ecosystem phenomics, IoT, Big Data, AI, and traditional knowledge, the initiative aims to uncover how desert organisms adapt to extreme environments, develop nature-inspired solutions, support disease management and bioprospecting, and create innovative strategies for ecological conservation and sustainable livelihoods. Through citizen science and interdisciplinary collaboration, Thar DESIGNS seeks to build a Desert Ecosystem Knowledge Grid to support research, innovation, entrepreneurship, and evidence-based policymaking.

Research Grants

Joint Coordinator & Principal Investigator, Ministry of AYUSH-supported Centre of Excellence, Ayurtech for Integrative Precision Health and Medicine. 2022–Present
Joint Coordinator & Principal Investigator, Thar-DESIGNS (Desert Ecosystem Innovations Guided by Nature and Selection), an intramural project supported by the PSA-supported Jodhpur City Knowledge Innovation Cluster (JCKIC). 2021– 2023
Principal Investigator (Genomics), Ministry of AYUSH-supported Centre of Excellence, Applied Development of Ayurveda Prakriti and Genomics. 2018–2021
Co-Investigator, ICMR-supported project at AIIMS, Understanding Pathobiology of Multiple Sclerosis – Biomarkers, Genetic and Phenotypic Signatures. 2018–2021
Principal Investigator, DBT-supported Paediatric Renal Biology Program, Nephrotic Syndrome subproject, Whole Exome Analysis for Mutations in Genes Encoding Key Podocyte Proteins. 2017–2021
Co-Principal Investigator, ICMR-supported Advanced Centre for Research in Paediatric Kidney Diseases, AIIMS. 2017–2021
Co-Investigator, Wellcome-funded Hypoxia and Pregnancy Study (HAPS), a collaborative project between AIIMS, SNM Leh, and UCL, London. 2016–2018
Programme Director & Principal Investigator (Genomics), CSIR-supported Ayurgenomics Unit (TRISUTRA) for Translational Research and Innovative Science Through Ayurgenomics. 2011–2017
Principal Investigator, CSIR-supported project, Ayurgenomics: Integration of Ayurveda with Genomics for Systems Biology Approach in Predictive and Personalized Medicine. 2009–2012
Convenor, CSIR-supported supra-institutional project, An Integrative Approach in Deciphering Genotype–Phenotype Correlation in Human Complex Disorders. 2007–2012
Principal Investigator, CSIR-supported project, Role of Alu Repeats in Genome-wide Regulation. 2007–2012
Principal Investigator, Indo-Russian collaborative DST-sponsored project, Genotype–Phenotype Correlation Based on Principles of Ayurveda with Special Focus on Prakriti. 2003–2006
Principal Investigator, DBT-sponsored project, Disease Genomics: Identification of Predisposition Markers and Candidate Genes for Neuropsychiatric Disorders. 2003–2006
Project Convener, CSIR TYFP project, Predictive Medicine Using Single Nucleotide and Repeat Polymorphism. 2002–2007
Project Participant, DBT-sponsored Programme on Functional Genomics. 1998–2003
Principal Investigator, CSIR Young Scientist Award project, Human Mitochondrial Chip for Studies in Mitochondrial Disorders.

Salient contributions from her work

1. Ayurgenomics and its applicability

Primary aim is to develop an integrative system biology framework that would help apportion human genome variability into constituent axes that are linked to healthy and disease states. In the Ayurveda, the oldest Indian system of precision medicine, individuals are classified into different constitution types “Prakriti” based on which an individual’s health and disease trajectories as well as responsiveness to drug and environment can be predicted. Our group has been involved in developing a novel framework of stratified medicine wherein we use diverse “omics” approaches with phenotyping principles of Ayurveda and objective measures from modern medicine. We have provided the first evidence of genomic correlates of Prakriti and have also demonstrated how this approach has been useful in discovery of a predictive marker for high altitude adaptation as well as thrombotic outcomes in hypoxia. Using machine learning and advanced statistical approaches our team has been also able to build predictive models of Prakriti for its global application. Following the leads from the first proof of concept study in Ayurgenomics we have developed an innovative framework of Ayurgenomics for translational research in CSIR TRISUTRA Unit at IGIB. This is a unit with inter-disciplinary approach combining the strengths of Ayurveda, high throughput genomics, genome informatics, medicine and public health for developing solutions for affordable health care and also use leads from Indian Traditional medicine for discoveries.

2. Genome Variation and Human Disease susceptibility

Our group has been involved in the Indian Genome Variation Consortium (IGVC) project and carried out extensive studies on SNPs and CNVs in Indian populations and its comparison with world populations. I have been the convener of the Indian Genome Variation Consortium project which provided the first comprehensive genetic landscape of Indian populations. Leads from IGVC project has been used for tracing human migrations and history of diseases, identifying founders in different hereditary ataxias, signatures of human adaptations with respect to geo-climatic conditions and pathogen prevalence and developing genome based diagnostics primarily in the area of neurodegenerative disorders. I also led the Indian team for HUGO PanAsian project, which provided insight into peopling of Asia and brought out relatedness of Indian populations with other Asian populations.

3. Genetics of hereditary ataxia

We have carried our a collaborative research spanning over 20 years with AIIMS, Delhi and NIMHANs Bangalore in the area of clinically and genetically heterogenous hereditary ataxias. Our group has been able to develop an algorithm for genetic diagnostic for rare diseases in Indian population based on our experience in SCAs. Using population polymorphism scanning approaches we have provided insights into the mechanism and origin of triplet repeat expansion in hereditary ataxias, identified founders for different ataxias like SCA1, SCA2, SCA3, SCA7 and SCA12 in the Indian population, traced mutational histories of many of these through human migrations etc. We also for the first time carried out exome sequencing in uncharacterized cases and identified novel mutations in reported as well as novel genes associated with ataxia. This has led to development of targeted panel of ataxia. We have also built a resource of biorepository of ataxia including patient specific LCL and iPSc induced neuronal lines to dissect the biology of ataxia and identify genetic modifiers. AIIMS has an ataxia clinic and the diagnostic algorithm developed through our initiative has been useful in classifying over 5000 families that have been referred to AIIMS from different parts of the country.

4. Repetitive sequences in genome organisation and function

We have used computational and functional genomics approaches to carry out Functional annotation of primate specific Alu repeats in the human genome: Our studies at the genome-wide scale have shown that these repeats, are non-randomly distributed in the genome and transcriptome and can create novel human specific transcriptional networks through diverse RNA mediated regulatory mechanisms by providing enhancer elements, miRNA target sites and splice isoform diversity through exonization, antisense and editing mechanisms. These functional elements are being mapped at the genome wide scale and their specific involvement in integrating stress signals to regulatory networks in being investigated.

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