Giancarlo La Marca

Recipient of the Robert Guthrie Award 2025

Professor Giancarlo la Marca has made outstanding contributions to the field of newborn screening, through the development, validation, and large-scale implementation of advanced biochemical methodologies based on tandem mass spectrometry. He has coordinated expanded newborn screening programs in Italy.
He has introduced novel disease-specific biomarkers into newborn screening panels., e.g. succinylacetone for Tyrosinemia type I, deoxyadenosine and adenosine for adenosine deaminase–deficient severe combined immunodeficiency (ADA-SCID) and deoxyguanosine and guanosine for purine nucleoside phosphorylase deficiency (PNP-SCID). His group has introduced  2-oxopropylpiperidine (2-OPP) and 6-oxopiperidine (6-PIP) as biomarkers for pyridoxine-dependent epilepsy to extend the reach and effectiveness of population-based screening. He has also been a pioneering figure in newborn screening for lysosomal storage disorders  and metachromatic leukodystrophy.
Professor la Marca has authored more than 220 peer-reviewed publications spanning clinical biochemistry, neonatal screening, pharmacology, and pediatrics. He is a coinventor of four international patents.
He has presented on 200 national and international conferences and serves as a reviewer for leading scientific journals, including Blood and The New England Journal of Medicine and International Journal of Neonatal Screening.
The programs he has helped develop (collaborating with European and Northern American partners), are now seen as key reference models for population-based newborn screening.