Prof. Arundhati Sharma did her graduation (B. Sc) and post graduation (M. Sc) in Genetics and Molecular Biology from Osmania and Pune University, respectively. She did her Ph D in Human Genetics from Nizam’s Institute of Medical Sciences and did her subsequent post doctoral work in the Department of Medical Genetics, SGPGIMS, Lucknow. Later, she joined as Assistant Professor of Genetics in the Department of Anatomy, AIIMS. Her work includes teaching, training and providing diagnostic facilities in the field of Human genetics. Her laboratory provides the following:

Diagnostic and patient care services-  conventional cytogenetic services (Karyotyping) and other chromosomal studies. Molecular cytogenetic services using fluorescent in-situ hybridization (FISH) for various genetic numerical and structural abnormalities, cancers and other genetic conditions.

Prenatal diagnostic and genetic counseling services- prenatal diagnosis of genetic disorders from chorionic villus sample, amniotic fluid, cord blood, skin biopsy, tumor tissue, abortus material etc. for detection of chromosomal aneuploidies and single gene disorders

Research interests- genetics of endocrine and eye disorders. Identification of biomarkers for prognostic and diagnostic purposes for various cancers and adverse drug reactions.

 

Publications:

Gupta V, Markan A, Somarajan BI, Sihota R, Gupta A, Gupta S, Sharma A. Phenotypic differences between familial versus non-familial Juvenile onset open angle glaucoma patients. Ophthalmic Genet; 2018;39(1):63-67.

Panda PK, Sood R, Kanabar K, Jadon R, Sharma A, Birla S, Mishra P, Kumar T. Dyskeratosis Congenita with Acute Myeloid Leukemia, Cryptogenic Liver Fibrosis and Portal Hypertension. JAPI; 2017:65, 88-92

Khandelwal P, Birla S, Bhatia D, Puraswani M, Saini H, Sinha A, Hari P, Sharma A, Bagga A. Mutations in membrane cofactor protein (CD46) gene in Indian children with hemolytic uremic syndrome. Clin Kid Journal, 2017, 16

 

Birla S, Khadgawat R, Jyotsna VP, Jain V, Garg MK, Bhalla AS, Sharma A. Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. Horm Metab Res. 2016; 48(12):822-827.

 

Birla S, Khadgawat R, Jyotsna VP, Jain V, Garg MK, Bhalla AS, Sharma A. Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency. Growth Hor IGF Res. 2016; 29:50-6.