Articles by Earnest James

Earnest James, Ph.D., is a Clinical Biochemical Genetics (ABMGG board) Fellow at the Children’s Hospital of Philadelphia. He specialises in Congenital Disorders of Glycosylation (CDG), a rare group of Inborn Errors of Metabolism, and lead clinical test development and biomarker discovery projects. He has roots in Chennai and is passionate about advocating for the early diagnosis of treatable genetic disorders in India through universal biochemical and genetic screening. Dr Earnest has authored research articles in high-impact journals and has been invited to present his work internationally. His scientific training is complemented by his passion for value-based healthcare. He has served as an executive board member of the Penn Biotech Group at the Wharton School, University of Pennsylvania.

A national newborn screening programme, as part of the health policy, is not yet a reality in India, even though such an initiative can help in the early detection of metabolic and genetic disorders. A universal screening programme initiated by the government can go a long way in the prevention of life-threatening illnesses in children, especially in this country, where the incidence of prematurity and low birth weight is quite high. However, newborn screening is available in many private hospitals and it is important for parents to be aware and ask for these tests for their newborn. To mark International…

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