With rapid advancement of sequencing technologies, it is becoming more and more possible to discern the impact of genomics on human health and disease. Our lab intends to capitalize on this progress in identifying & understanding the etiopathogenesis of ultra rare genetic disorders/ syndromes. In this context we are currently working ultra rare genetic syndromes caused by mutations in DPH2 & CHFR genes. In short, the identification of the putative pathogenic variation is done by NGS analysis and then the causality is established using functional assays in cell lines and animal models. In addition, our lab also handles diverse projects like Genome India, Indian Breast Cancer Genome Atlas and various infectious disease genomics projects relevant for public health.

Selected Publications

Tallapaka K Venugopal V, Dalal A, Aggarwal S. Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. Am J Med Genet Part A. 2018;176:1006–1010

Vineeth VS, Dutta UR,Tallapaka K, Das Bhowmik A, Dalal A. Whole exome sequencing identifies a novel 5MB deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures. Gene. 2018 Oct 5;673:56-60

Tallapaka K, Aggarwal S, Bhattacherjee A, Das Bhowmik A, Dalal A. Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned? Mol Syndromol. 2019 May;10(3):177-182.

Tallapaka K, Ranganath P, Ramachandran A, Uppin MS, Perala S, Aggarwal S, Lakshmi D, Meena AK, Dalal AB. Molecular and histopathological characterization of patients presenting with the Duchenne muscular dystrophy phenotype in a tertiary care center in Southern India. Indian Pediatr. 2019 Jul 15;56(7):556-559.

Uday Kiran, C G Gokulan, Santosh Kumar Kuncha, Dhiviya Vedagiri, Bingi Thrilok Chander, Aedula Vinaya Sekhar, Suchitra Dontamala, Arakatla Lohith Reddy,Karthik Bharadwaj Tallapaka, Rakesh K Mishra, Krishnan Harinivas Harshan, Easing diagnosis and pushing the detection limits of SARS-CoV-2, Biology Methods and Protocols, , bpaa017, https://doi.org/10.1093/biomethods/bpaa017