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Dr. Pankaj Kumar Jha

Associate Professor, Amrita Research Center, Amrita Vishwa Vidyapeetham, Faridabad

Bio

Dr. Pankaj Kumar Jha is an accomplished Associate Professor at Amrita Institute of Medical Sciences, specializing in clinical genetics and genomic analysis. His expertise lies in identifying genetic variants associated with rare and complex diseases, and he has led projects focusing on genotype-phenotype correlations and pathophysiological changes at the cellular level. Previously, Dr. Kumar held prominent roles at MedGenome Labs, AIIMS Jodhpur, CSIR-IGIB, NIH (USA), and the Chinese Academy of Sciences. He has a PhD in Biotechnology and has received several fellowships, including from NIH and the Chinese Academy. He has published extensively, with 26 research papers primarily focused on genetics, genomics, and metabolic diseases. Dr. Kumar possesses advanced skills in genomic data analysis, bioinformatics, machine learning, and statistical software, along with hands-on experience in experimental and computational genomics.

Publications

Journal Article

Year : 2022

Landscape of Variability in Chemosensory Genes Associated With Dietary Preferences in Indian Population: Analysis of 1029 Indian Genomes

Cite this Research Publication : P. Prakrithi, Pankaj Jha, Jushta Jaiswal, Disha Sharma, Rahul C. Bhoyar, Abhinav Jain, Mohamed Imran, Vigneshwar Senthilvel, Mohit Kumar Divakar, Anushree Mishra, Jaspal Sabharwal, Vinod Scaria, Sridhar Sivasubbu, Mitali Mukerji, Landscape of variability in chemosensory genes associated with dietary preferences in Indian population: Analysis of 1029 Indian genomes, Front Genet, 2022 Jul 12;13:878134.

Year : 2021

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India

Cite this Research Publication : Pankaj Pathak, Mehar Chand Sharma, Pankaj Jha, Chitra Sarkar, Mohammed Faruq, Prerana Jha, Vaishali Suri, Rohit Bhatia, Sumit Singh, Sheffali Gulati, Mohammad Husain, Mutational spectrum of CAPN3 with genotype-phenotype correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) patients in India, J Neuromuscul Dis. 2021

Year : 2021

Functional variants in cytochrome b5 type A (CYB5A) are enriched in Southwest American Indian individuals and associate with obesity

Cite this Research Publication : Samantha E. Day, Michael Traurig, Pankaj Kumar, Paolo Piaggi, Cigdem Koroglu, Sayuko Kobes, Robert L. Hanson, Clifton Bogardus, Leslie J. Baier, Functional Variants in Cytochrome B5 Type A (CYB5A) are Enriched in Southwest American Indians and Associate with Obesity, Obesity, 2021

Year : 2020

Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians

Cite this Research Publication : Paolo Piaggi, Çiğdem Köroğlu, Anup Nair, Jeff Sutherland, Yunhua Li Muller, Pankaj Kumar, Wen-Chi Hsueh, Sayuko Kobes, Alan Shuldiner, Hye In Kim, Nehal Gosalia, Christopher Van Hout, Marcus Jone, William Knowler, Jonathan Krakoff, Robert Hanson, Clifton Bogardus, Leslie J Baier, Exome sequencing identifies a nonsense variant in DAO associated with reduced energy expenditure in American Indians, J Clin Endocrinol Metab, 2020.

Year : 2019

Identification and functional validation of genetic variants in potential miRNA target sites of established BMI genes

Cite this Research Publication : Pankaj Kumar, Michael Traurig, and Leslie J. Baier, Identification and Functional Validation of Genetic Variants in Potential miRNA Target Sites of Established BMI Genes, Int J Obes (Lond). 2019. 44(5):1191-1195.

Year : 2016

Selecting SNPs informative for African, American Indian and European Ancestry: application to the Family Investigation of Nephropathy and Diabetes (FIND)

Cite this Research Publication : Williams RC, Elston RC, Kumar P, Knowler WC, Abboud HE, Adler S, Bowden DW, Divers J, Freedman B, Igo RP Jr, Ipp E, Iyengar SK, Kimmel PL, Klag MJ, Kohn O, Langefeld CD, Leehey DJ, Nelson RG, Nicholas SB, Pahl MV, Parekh RS, Rotter JI, Schelling JR, Sedor JR, Shah VO, Smith MW, Taylor KD, Thameem F, Thornley-Brown D, Winkler CA, Guo X, Zager P, Hanson RL, FIND Research Group. Selecting SNPs informative for African, American Indian and European Ancestry: application to the Family Investigation of Nephropathy and Diabetes (FIND), BMC Genomics, 2016

Year : 2015

Interferon-γ (IFNG) microsatellite repeat and single nucleotide polymorphism haplotypes of IFN-α receptor (IFNAR1) associated with enhanced malaria susceptibility in Indian populations

Cite this Research Publication : Kanchan K, Jha P, Pati SS, Mohanty S, Mishra SK, Sharma SK, Awasthi S, Venkatesh V, Habib S. Interferon-γ (IFNG) microsatellite repeat and single nucleotide polymorphism haplotypes of IFN-α receptor (IFNAR1) associated with enhanced malaria susceptibility in Indian populations, Infect Genet Evol, 2015

Year : 2015

Signature of positive selection of PTK6 gene in East Asian populations: a cross talk for Helicobacter pylori invasion and gastric cancer endemicity

Cite this Research Publication : Pankaj Jha, Dongsheng Lu, Yuan Yuan, Shuhua Xu, Signature of positive selection of PTK6 gene in East Asian populations: a cross talk for Helicobacter pylori invasion and gastric cancer endemicity, Mol Genet Genomics, 2015

Year : 2015

Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data

Cite this Research Publication : Pankaj Jha, Dongsheng Lu, Shuhua Xu, Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data, Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data, PLoS One, 2015

Year : 2014

Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins

Cite this Research Publication : Kaurani L, Vishal M, Kumar D, Sharma A, Mehani B, Sharma C, Chakraborty S, Jha P, Ray J, Sen A, Dash D, Ray K, Mukhopadhyay A, Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins, Invest Ophthalmol Vis Sci, 2014

Year : 2014

Extensive copy number variations in admixed Indian population of African ancestry: potential involvement in adaptation

Cite this Research Publication : Narang A, Jha P, Kumar D, Kutum R, Mondal AK; Indian Genome Variation Consortium, Dash D, Mukerji M, Extensive copy number variations in admixed Indian population of African ancestry: potential involvement in adaptation, Genome Biol Evol, 2014

Year : 2013

Comparative study of IDH1 mutations in gliomas by high resolution melting analysis, immunohistochemistry and direct DNA sequencing

Cite this Research Publication : Agarwal S, Sharma MC, Jha P, Pathak P, Suri V, Sarkar C, Chosdol K, Suri A, Kale SS, Mahapatra AK, Jha P. Comparative study of IDH1 mutations in gliomas by immunohistochemistry and DNA sequencing, Neuro Oncol, 2013

Year : 2012

Footprints of genetic susceptibility to pulmonary tuberculosis: cytokine gene variants in north Indians

Cite this Research Publication : Abhimanyu, Bose M, Jha P, Indian Genome Variation Consortium. Footprints of genetic susceptibility to pulmonary tuberculosis: Cytokine gene variants in north Indians, Indian J Med Res., 2012

Year : 2012

Deletion of the APOBEC3B gene strongly impacts susceptibility to falciparum malaria

Cite this Research Publication : Jha P, Swapnil Sinha, Kanika Kanchan, Tabish Qidwai, Ankita Narang, Prashant Kumar Singh, Sudhanshu S. Pati, Sanjib Mohanty, Saroj K. Mishra, Surya K. Sharma, Shally Awasthi, Vimala Venkatesh, Sanjeev Jain, Analabha Basu, Shuhua Xu, Indian Genome Variation Consortium, Mitali Mukerji, Saman Habib, Deletion of the APOBEC3B gene strongly impacts susceptibility to falciparum malaria, Infect Genet Evol. 2012.

Year : 2011

A genome-wide search for non-UGT1A1 markers associated with unconjugated bilirubin level reveals significant association with a polymorphic marker near a gene of the nucleoporin family

Cite this Research Publication : Shalini Datta, Abhijit Chowdhury, Malay Ghosh, Kaushik Das, Jha P, Roshan Colah, Mitali Mukerji, Partha P. Majumder, A genome-wide search for non-UGT1A1 markers associated with unconjugated bilirubin level reveals significant association with a polymorphic marker near a gene of the nucleoporin family, Annals of Human Genetics, 2011

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