Dr. Kumarswamy Thangaraj

Director of CDFD
Principal Investigator-NGC


Research Interests

Our major research interest has been in the field of human origin, health and disease. We are interested in understand the complex origin and affinities of Indian populations, using the genomics variations of contemporary populations and ancient biological remains. We are also interested in understanding the impact of endogamy on health and disease of South Asians. Our other research focus is to find the molecular basis of; male infertility, cardiovascular diseases, sex determination, and mitochondrial disorders. Some of our most significant contributions in the above field are as follows:

We discovered that the enigmatic tribal populations of Andaman Islands are the first modern humans who migrated out of Africa through southern coastal route about 65,000 years ago (Science, 2005). Subsequently, we found that the present-day Indian populations descend from two diverse groups; namely, Ancestral South Indians (ASI) and Ancestral North Indians (ANI) (Nature, 2009). Further, we found that the ASI and ANI have admixed during the past 2000 - 4000 years (American Journal of Human Genetics, 2013); followed by strict endogamy leading to population-specific recessive disease, due to founder events (Nature Genetics, 2017).

Selected Publications
  • Shinde V, Narasimhan VM, Rohland N, Mallick S, Mah M, Lipson M, Nakatsuka N, Adamski N, Broomandkhoshbacht N, Ferry M, Lawson AM, Michel M, Oppenheimer J, Stewardson K, Jadhav N, Kim YJ, Chatterjee M, Munshi A, Panyam A, Waghmare P, Yadav Y, Patel H, Kaushik A, Thangaraj K, Meyer M, Patterson N, Rai N, Reich D (2019) An Ancient Harappan Genome Lacks Ancestry from Steppe Pastoralists or Iranian Farmers. Cell. 179:729-735. (accompanied with Preview by Maanasa Raghavan, Hannes Schroeder, Anna-Sapfo Malaspina)
  • Nakatsuka N, Moorjani P, Rai N, Sarkar B, Tandon A, Patterson N, Bhavani GS, Girisha KM, Mustak MS, Srinivasan S, Kaushik A, Vahab SA, Jagadeesh SM, Satyamoorthy K, Singh L, Reich D, Thangaraj K (2017) The promise of discovering population-specific disease-associated genes in South Asia. Nature Genetics. 49: 1403-1407. (accompanied with coverpage and Editorial)
  • Reich D*, Thangaraj K*, Patterson N*, Price AL*, Singh L (2009) Reconstructing Indian Population History. Nature. 461: 489-494. (*equal first authors) (accompanied with coverpage and News & Views by Aravinda Chakravarty)
  • Dhandapany PS, Sadayappan S, Xue Y, Powell GT, Rani DS, Nallari P, Rai TS, Khullar M, Soares P, Bahl A, Tharkan JM, Vaideeswar P, Rathinavel A, Narasimhan C, Ayapati DR, Ayub Q, Mehdi SQ, Oppenheimer S, Richards M, Price A, Patterson N, Reich D, Singh L, Tyler-Smith C, Thangaraj K (2009) A common MYBPC3 (Cardiac Myosin Binding Protein C) variant associated with cardiomyopathies in South Asia. Nature Genetics. 41 187-191.
  • Thangaraj K, Chaubey G, Kivisild T, Reddy AG, Singh VK, Rasalkar AA, Singh L (2005) Reconstructing the origin of the Andaman Islanders. Science 308: 996. (accompanied with Perspectives by Peter Foster and Shuichi Matsumura)