Home: Anusandhan National Research Foundation, Department of Science & Technology, Government of India

Public-Health Relevance Project under High Research Priority Area Program

New-born Screening for Inborn Errors of Metabolism (IEM) has completed 50 golden years and it is regarded as “The MOST IMPORTANT PUBLIC HEALTH INITIATIVE” of this decade. The burden of IEMs (~500 genetic disorders) in our country is estimated between 5-15% of total births in the country. Keeping in view of distinct genetic landscape of the Indian population, available clinical support and socio-cultural practices, SERB-DST supported a feasibility study on newborn screening for treatable disorders and epidemiologic data generation for inborn metabolic errors in Delhi state under Intensification of Research in High Priority Areas program called IRHPA. Investigator of this project were Prof. BK Thelma, Dept of Genetics, University of Delhi South Campus (UDSC, Delhi), Prof. Seema Kapoor, Dept. of Pediatrics, Maulana Azad medical college (MAMC, Delhi) and an Industry partner (Lab India Systems Inc, Delhi) to screen 200,000 newborns for five treatable disorders across 20 hospitals in Delhi state as a pilot program between 2014-2017.

Based on it success training was also imparted to biochemists and public health staff of Tamil Nadu and Maharashtra hospitals. Biochemists from the premier institutions like AIIMS Rishikesh, Bhopal and RIMS Ranchi were also trained under this program. More recently, outcome of this study culminated into Mission NEEV (Neonatal Early Evaluation Vision) to cover 1.5 lakhs newborn babies in 31 birthing centers in Delhi. NEEV will focus on tackling visible functional and metabolic defects in the babies and screen neonates for three common treatable metabolic disorders such as congenital hypothyroidism, congenital adrenal hyperplasia and thalassemia at Maulana Azad Medical College, Delhi. :