@article {156536, title = {Mapping genetic diversity with the GenomeIndia project.}, journal = {Nat Genet}, volume = {57}, year = {2025}, month = {2025 Apr}, pages = {767-773}, chapter = {767}, abstract = {

The rich ethnolinguistic and sociocultural differences that exist in India offers a unique opportunity to study human diversity. With the whole genomes of 10,000 healthy and unrelated Indians from 83 populations, the GenomeIndia project captures the genetic diversity of one of the highly underrepresented populations in the global genomics landscape.

India, the most populous nation in the world with 1.44 billion people from over 4,600 distinct endogamous groups, represents an invaluable source of ethnolinguistic, sociocultural and genetic diversity. Deciphering the genetic makeup of human populations helps in understanding their ancestry, evolutionary history, admixture patterns, disease susceptibility and drug response. To this end, world over, genomics consortia have been established. Nevertheless, the global genomic landscape is predominantly Euro-centric1; although some projects have documented worldwide genetic diversity by discovering DNA sequence variation in several human populations, for example the 1000 Genomes project2, followed by others across the world, recent inclusions being at biobank scale3,4,5,6,7. Unfortunately, India has been severely underrepresented in these global studies. To address this lacuna, a few studies have been initiated to understand the human genetic diversity of Asia (GenomeAsia)8\ and India (IndiGen and LASI-DAD)9,10.

India experienced several waves of migration11,12\ with evidence of population expansion during the Paleolithic and Neolithic periods. The demographic history of India is also unique, with exposure to different environments and widespread admixture, followed by formation of numerous endogamous groups13. Many of the contemporary Indian populations have originated from a few founding groups and have maintained distinct identities through centuries of endogamy. These endogamous groups13,14, apart from sharing genetic similarities, possess unique variations, including distinct disease-causing mutations with amplified frequencies within specific groups.

}, issn = {1546-1718}, doi = {10.1038/s41588-025-02153-x}, url = {https://www.nature.com/articles/s41588-025-02153-x}, author = {Bhattacharyya, Chandrika and Subramanian, Krithika and Uppili, Bharathram and Biswas, Nidhan K and Ramdas, Shweta and Tallapaka, Karthik Bharadwaj and Arvind, Prathima and Rupanagudi, Khader Valli and Maitra, Arindam and Nagabandi, Tulasi and De, Tiyasha and Singh, Kuldeep and Sharma, Praveen and Sharma, Nanaocha and Raghav, Sunil K and Prasad, Punit and Soniya, E V and Jaleel, Abdul and Nelson Sathi, Shijulal and Joshi, Madhvi and Joshi, Chaitanya and Lahiri, Mayurika and Dixit, Santosh and Shashidhara, L S and Senthil Kumar, Nachimuthu and Lalhruaitluanga, H and Nundanga, Lal and Shivakumar, Venkataram and Venkatasubramanian, Ganesan and Rao, Naren P and Ganie, Mohd Ashraf and Wani, Imtiyaz Ahmad and Jha, Ganganath and Dalal, Ashwin and Bashyam, Murali Dharan and Varadwaj, Pritish Kumar and Bs, Sanjeev and Simmhan, Yogesh and Jain, Chirag and Sundar, Durai and Gupta, Ishaan and Yadav, Pankaj and Sinha, Himanshu and Narayanan, Manikandan and Raman, Karthik and Padinjat, Raghu and Sabarinathan, Radhakrishnan and Narahari, Yadati and Ravindranath, Vijayalakshmi and Kumarasamy, Thangaraj and Sowpati, Divya Tej and Faruq, Mohammed and Basu, Analabha and Kahali, Bratati} } @article {33717, title = {Discovery biology of neuropsychiatric syndromes (DBNS): a center for integrating clinical medicine and basic science.}, journal = {BMC Psychiatry}, volume = {18}, year = {2018}, month = {2018 Apr 18}, pages = {106}, abstract = {

BACKGROUND: There is emerging evidence that there are shared genetic, environmental and developmental risk factors in psychiatry, that cut across traditional diagnostic boundaries. With this background, the Discovery biology of neuropsychiatric syndromes (DBNS) proposes to recruit patients from five different syndromes (schizophrenia, bipolar disorder, obsessive compulsive disorder, Alzheimer{\textquoteright}s dementia and substance use disorders), identify those with multiple affected relatives, and invite these families to participate in this study. The families will be assessed: 1) To compare neuro-endophenotype measures between patients, first degree relatives (FDR) and healthy controls., 2) To identify cellular phenotypes which differentiate the groups., 3) To examine the longitudinal course of neuro-endophenotype measures., 4) To identify measures which correlate with outcome, and 5) To create a unified digital database and biorepository.

METHODS: The identification of the index participants will occur at well-established specialty clinics. The selected individuals will have a strong family history (with at least another affected FDR) of mental illness. We will also recruit healthy controls without family history of such illness. All recruited individuals (N = 4500) will undergo brief clinical assessments and a blood sample will be drawn for isolation of DNA and peripheral blood mononuclear cells (PBMCs). From among this set, a subset of 1500 individuals (300 families and 300 controls) will be assessed on several additional assessments [detailed clinical assessments, endophenotype measures (neuroimaging- structural and functional, neuropsychology, psychophysics-electroencephalography, functional near infrared spectroscopy, eye movement tracking)], with the intention of conducting repeated measurements every alternate year. PBMCs from this set will be used to generate lymphoblastoid cell lines, and a subset of these would be converted to induced pluripotent stem cell lines and also undergo whole exome sequencing.

DISCUSSION: We hope to identify unique and overlapping brain endophenotypes for major psychiatric syndromes. In a proportion of subjects, we expect these neuro-endophenotypes to progress over time and to predict treatment outcome. Similarly, cellular assays could differentiate cell lines derived from such groups. The repository of biomaterials as well as digital datasets of clinical parameters, will serve as a valuable resource for the broader scientific community who wish to address research questions in the area.

}, issn = {1471-244X}, doi = {10.1186/s12888-018-1674-2}, author = {Viswanath, Biju and Rao, Naren P and Narayanaswamy, Janardhanan C and Sivakumar, Palanimuthu T and Kandasamy, Arun and Kesavan, Muralidharan and Mehta, Urvakhsh Meherwan and Venkatasubramanian, Ganesan and John, John P and Mukherjee, Odity and Purushottam, Meera and Kannan, Ramakrishnan and Mehta, Bhupesh and Kandavel, Thennarasu and Binukumar, B and Saini, Jitender and Jayarajan, Deepak and Shyamsundar, A and Moirangthem, Sydney and Vijay Kumar, K G and Thirthalli, Jagadisha and Chandra, Prabha S and Gangadhar, Bangalore N and Murthy, Pratima and Panicker, Mitradas M and Bhalla, Upinder S and Chattarji, Sumantra and Benegal, Vivek and Varghese, Mathew and Reddy, Janardhan Y C and Raghu, Padinjat and Rao, Mahendra and Jain, Sanjeev} }