Position:

Write-up of clinical service, research and development interest/focus, past and present goals:

• Five years of experience in diagnostic molecular genetics in Christian Medical College, Vellore and National Institute of Biomedical Genomics, Kalyani. Worked for the establishment of Genetic Services Unit in IPGMER and SSKM Hospital, Kolkata. This lab has tested more than 1100 patients for around 45 different inherited diseases. The lab got high scores from European Molecular Genetics Quality Assurance Network (EMQN) and is included in the NCBI Gene Test Registry.
• We had identified PNPLA3 rs738409 polymorphism as a risk factor for alcoholic liver disease in North Indians and subsequently shown HepG2 cell line to be a natural model system to study this polymorphism.
• We have identified and reported several novel genetic variants associated with rare genetic diseases both in the form of publication and ClinVar submission.

Significant Recognition:

Selected for International Summit of Human Genetics and Genomics 2018 by National Human Genome Research Institute, NIH, Bethesda.

Was awarded the prestigious Jagadis Bose National Science Talent Search Scholarship (2001).

Was awarded Academic Medal by PGIMER, Chandigarh (2011).

Research Support:

Membership of Professional Bodies:

• Life member of Indian Academy of Medical Genetics.

Publications:

1. Yoganathan S, Sudhakar SV, Thomas M, Dutta AK, Danda S. “Eye of tiger sign” mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN). Brain and Development. 2016;38(5):516–9.

2. Dutta AK. A curious case of hyperbilirubinemia. Indian Journal of Clinical Biochemistry. 2012;27(2):200–1.

3. Dutta AK, Saha S, Chatterjee S, Datta S. A Dilemma in Diabetes. 2012;

4. Dutta AK. A new PCR-RFLP method for diagnosing PNPLA3 RS738409 polymorphism. 2012;

5. Dutta AK. Adiponutrin (PNPLA3) in liver fibrogenesis: Is unaltered HepG2 cell line a better model system compared to murine models? Medical Hypothesis. 2015;

6. Dutta AK, Danda S, Muthusamy K, Alexander M, Sudhakar SV, Hansdak S, et al. Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c. 526delG) in Eastern Indian and Surinamese population. Molecular genetics and metabolism reports. 2015;3:33–5.

7. Dutta AK, Ekbote AV, Thomas N, Omprakash S, Danda S. De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities. Clinical dysmorphology. 2016;25(4):190–1.

8. Ullah E, Saqib MAN, Sajid S, Shah N, Zubair M, Khan MA, et al. Genetic analysis of consanguineous families presenting with congenital ocular defects. Experimental eye research. 2016;146:163–71.

9. Dutta AK. Genetic factors affecting susceptibility to alcoholic liver disease in an Indian population. Annals of hepatology. 2013;12(6):901–7.

10. Yoganathan S, SUDHAKAR S, Thomas M, Dutta AK, Danda S, Chandran M. Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy. Iranian journal of child neurology. 2018;12(2):107.

11. Dutta AK, Paulose BK, Danda S, Alexander S, Tamilarasi V, Omprakash S. Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease. Indian journal of nephrology. 2016;26(4):288.

12. Dutta AK, Danda S. Restrictive Dermopathy. Pediatrics & Neonatology. 2016;57(3):259.

13. Chaudhary AK, Mohapatra R, Nagarajaram HA, Ranganath P, Dalal A, Dutta A, et al. The novel EDAR p. L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. Journal of the European Academy of Dermatology and Venereology. 2017;31(1):e17–20.

14. Dutta AK. Schuurs-Hoeijmakers syndrome in a patient from India. Am J Med Genet A. 2019 Apr;179(4):522-524.  doi: 10.1002/ajmg.a.61058.