Gruppo La Marca
Newborn Screening, Clinical Biochemistry and Clinical Pharmacy Unit
Coordinator of Research Team
Giancarlo La Marca
Brief Biographical sketch of the Coordinator
-Director of Newborn Screening, Clinical Biochemistry and Clinical Pharmacy Lab, Meyer Children’s Hospital IRCCS, Florence
-Full Professor of Clinical Biochemistry and Clinical Molecular Biology, University of Florence
- Vice- Scientific Director of Meyer Children’s Hospital IRCCS, Florence
- He is the President of the Mass Spectrometry Centre of the University of Florence
-He was (2018-21) the President of the Italian Society for the Study of Inherited Metabolic Diseases and Newborn Screening (SIMMESN)
- He was a member of the CLSI (Clinical Laboratory Standard Institute) Advisory Board for the revision of USA Guidelines on Expanded Newborn Screening by Tandem Mass Spectrometry
- He is a member of the Italian Council for Expanded Newborn Screening by Tandem Mass Spectrometry, Ministry of Health
- He was (2019-25) member of the SSIEM Council (Society for the Study of Inborn errors of Metabolism)
- He is member of the Board of Trustees of the ERNDIM (Quality Assurance in Laboratory testing for IEM).
- He is coordinator-co-coordinator of several national/international research granted projects
Giancarlo la Marca has been an invited lecturer to more than 200 national and international meetings and he has authored more than 220 peer-reviewed publications and 4 patents dealing with areas of newborn screening, pharmacology, clinical chemistry, mass spectrometry and paediatrics. He serves as a reviewer for many scientific journals including The New England Journal of Medicine and Blood. Total IF >1000; H Index 50
Giancarlo la Marca has participated to, or coordinated, task forces, committees and commissions of national or international bodies and he has participated or he has been the principal investigator of numerous national and international research projects
Awards:
-Porcellino Prize 2011 by City of Florence for research activity in pediatric preventive medicine
-Young Researchers Prize 2012 Meyer Hospital/University of Florence for research in pediatric clinical chemistry
-Paul Harris Prize 2012, for research in pediatric preventive medicine
-“Excellence of the Year” prize, 2013, Lions Club, Scandicci, Florence”
-International Society for Neonatal Screening: ISNS Dussault Medal 2014 to “honour a researcher who has made a significant contribution to neonatal or other population-based screening which is recognized as such”.
-Voa Voa Award 2015: “For personal and professional commitment made in the pediatric research and application of concrete scientific solutions for the benefit of society as a whole”
-Florence Ambassador Award 2024: city’s official recognition to charismatic figures from the academic who have committed themselves to fostering the acquisition of conferences and events with a strong economic impact.
Member of the following Scientific Societies
SIBIOC: Società Italiana di Biochimica Clinica e Biologia Molecolare Clinica - Medicina di Laboratorio
SSIEM: SOCIETY FOR THE STUDYOF INBORN ERRORS OF METABOLISM
ISNS: International Society for Neonatal Screening
SIMMESN: Società italiana per lo studio delle Malattie Metaboliche Ereditarie e Screening Neonatale
Research Team
Prof Giancarlo la Marca, head of the research Unit
Dr Alessandra Bettiol, researcher
Dr Roberta Damiano, researcher IRCCS Meyer
Dr Sabrina Malvagia, biologist
Dr Silvia Funghini, biologist
Dr Daniela Ombrone, biologist
Dr Giulia Forni, biologist
Dr Emanuela Scolamiero, biologist
Dr Massimo Mura, chemist
Dr Fabiano Cappellini, lab technician
Dr Alindo Ygrishti, lab technician
Dr Sara Poggiali, lab technician
Dr Francesca Raspini, lab technician
Dr Paola Calanni Runzo, lab technician
Dr Sara Peli, lab technician
Dr Maria Teresa Balzano, lab technician
Dr Anna Messeri, lab technician
Current research interest
His recent activities are mainly focused on developing new tests (1st and 2nd tier test) to include additional treatable and actionable disorders in newborn screening program.
Giancarlo la Marca has been an invited lecturer to more than 200 national and international meetings and he has authored more than 220 peer-reviewed publications and 4 patents dealing with areas of newborn screening, pharmacology, clinical chemistry, mass spectrometry and paediatrics. He serves as a reviewer for many scientific journals including The New England Journal of Medicine and Blood. Total IF >1000; H Index 50
Key words
Clinical Biochemistry; Metabolic Diseases; Rare Diseases; Newborn Screening; Mass Spectrometry;
Chromatography; Clinical Pharmacy; Therapeutic Drug Monitoring
Current/recent sources of funding
-Principal Investigator: Diagnosi precoce della adrenoleucodistrofia X-linked; Finanziato da Associazione Italiana Adrenoleucodistrofia Onlus (AIALD) 30.000 euro
-Investigator: European Joint Program Rare Disease JTC 2020 EJP RD COFUND-EJP N° 825575: Pre-clinical research to develop effective therapies for rare diseases: CHAnging Rare disorders of LysInE metabolism 299.000 euro
-Investigator: HORIZON-HLTH-2022-TOOL-12-01-two-stage — Computational models for new patient stratification strategies 10.000 euro
- Principal Investigator: Screening Neonatale per la diagnosi di Leucodistrofia Metacromatica (MLD) Finanziamento 450.000 euro
-Principal Investigator: EPPermed_ Twinning Call 2026 (EPTWIN): BRIdging knowleDGE for the implementation of Pyridoxine-Dependent Epilepsy in Newborn Screening Programs (BRIDGE-PDE) 50.000 euro
10 best publications of the last 5 years
- Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group. Hematopoietic stem- and progenitor-cell gene therapy for Hurler syndrome. N Engl J Med. 2021; 385(21):1929-1940. (IF 176.08)
- Brunetti-Pierri N, Ferla R, Ginocchio VM, Rossi A, Fecarotta S, Romano R, Parenti G, Yildiz Y, Zancan S, Pecorella V, Dell’Anno M, Graziano M, Alliegro m, Andria G, Santamaria F, Brunetti-Pierri R, Simonelli f, Nigro V, Vargas M, Servillo G, Borgia F, Soscia E, Prasad C, Chard M, O’ Callaghan M, Danos O, Marteau JB, Galimberti S, Valsecchi M, Veron P, Mingozzi F, Fallarino F, la Marca G, Sivri S and Auricchio A. Safety and efficacy of liver-directed AAV-mediated gene therapy for mucopolysaccharidosis type VI. N Engl J Med Evidence. 2022; 1 (7). (IF 11.60)
- Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators, Masuelli L, Conti V, Novarino G, Fassio A. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022; 145(8):2687-2703. (IF 14.60)
- Rossi A, Malvagia S, la Marca G, Parenti G, Brunetti-Pierri N. Biomarkers for gene therapy clinical trials of lysosomal storage disorders. Mol Ther. 2024 Jun 6:S1525-0016(24)00385 (IF 12.0)
- Consiglieri G, Tucci F, De Pellegrin M, Guerrini B, Cattoni A, Risca G, Scarparo S, Sarzana M, Pontesilli S, Mellone R, Gasperini S, Galimberti S, Silvani P, Filisetti C, Darin S, Forni G, Miglietta S, Santi L, Facchini M, Corti A, Fumagalli F, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Recupero S, Canarutto D, Doglio M, Tedesco L, Volpi N, Rovelli A, la Marca G, Valsecchi MG, Zancan S, Ciceri F, Naldini L, Baldoli C, Parini R, Gentner B, Aiuti A, Bernardo ME. Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome. Sci Transl Med. 2024 May;16(745):eadi8214. (IF 14.6)
- Ricci S, Guarnieri V, Capitanini F, Pelosi C, Astorino V, Boscia S, Calistri E, Canessa C, Cortimiglia M, Lippi F, Lodi L, Malvagia S, Moriondo M, La Marca G, Azzari C Expanded Newborn Screening for Inborn Errors of Immunity: The Experience of Tuscany. J Allergy Clin Immunol Pract. 2024 Jun;12(6):1622-1630.e4. (IF 6.6)
- Damiano R, Della Bona M, Procopio E, Gasperini S, Guerrini R, Bettiol A, la Marca G. Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry. Clin Chim Acta. 2025 Feb 1;567:120111. doi: 10.1016/j.cca.2024.120111. Epub 2024 Dec 25. PMID: 39725130 (IF 4.1)
- Damiano R, Della Bona M, Procopio E, Guerrini R, Bettiol A, la Marca G. Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests. Clin Chem Lab Med. 2025 Feb 4. doi: 10.1515/cclm-2024-1230. Online ahead of print. PMID: 39900492 (IF 4.4)
- Malvagia S, Daniotti M, Tonin R, Ferri L, Ombrone D, Forni G, Scolamiero E, Funghini S, Rinaldi M, Falliano S, Paoli A, Mura M, Raspini F, Poggiali S, Scaturro G, Sacchini M, Donati MA, Procopio E, Guerrini R, Morrone A, la Marca G. Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden. Mol Genet Metab. 2026 Apr 6;148(2):110114. doi: 10.1016/j.ymgme.2026.110114. (IF 4.0)
- Barbon E, Simoni C, Argabright A, Boettiger M, Negri C, Manta E, Raimondi A, Vezzoli E, Canepari C, Biffi M, Nonis A, Gazzo F, Benedicenti F, Montini E, la Marca G, Sanvito F, Smith J, D'Alessandro A, Cantore A. Liver-directed lentiviral gene therapy confers durable hepatic and systemic amelioration of methylmalonic acidemia in mice. J Hepatol. 2026 May 25:S0168-8278(26)00288-6. doi: 10.1016/j.jhep.2026.05.011. (IF 40.1)
Main scientific contributions
The long-term goal of Giancarlo la Marca’s research activities has been directed towards improved understanding and knowledge of the clinical, genetic and biological basis of metabolic diseases in order to the discover novel biomarkers for their early detection through newborn screening program. He has been a pioneer for the expansion of newborn screening in Italy. His program is responsible for the screening of all newborns in several regions of Italy. He has also been very active in training and helping other regions to implement technology in their newborn screening laboratories.
He has authored 4 patents:
- PCT: WO/2011/076859: Method and Kit for determining metabolites on dried blood spot
- PCT: EP2155185B1: Detecting Succinylacetone
- PCT: WO/2011/080725: Compounds with both analgesic and anti-hyperalgesic efficacy
- PCT: WO2015128697 Novel compounds with both allodinic and anti-hyperalgesic activity
The patents PCT EP2155185B1: Detecting Succinylacetone and PCT WO/2011/076859: Method and Kit for determining metabolites on dried blood spot are licensed to international companies producing commercial kits for clinical-biochemical diagnostics
Collaborations
- IRCCS Bambino Gesù, Città del Vaticano, Roma
- IRCCS G. Gaslini, Genova
- IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia
- Azienda Ospedaliera Integrata di Verona
- IRCCS Ospedale San Raffaele, Milano
- Harvard Medical School, Boston, MA, USA
- Duke University Medical Center, Durham, NC, USA
- Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA
- ARUP Laboratories, Salt Lake City, UT, USA
- Molecular and Cellular Immunology Section, UCL Institute of Child Health, Londra, UK
- Div. of Clinical Immunology, Department of Laboratory Medicine, Karolinska University Hospital Huddinge, Stoccolma, Svezia
- Zentrum fuer Kinderheilkunde und Jugendmedizin Centrum fuer Chronische Immundefizienz Universitaet Friburgo, Germania
- Istituto Telethon di Genetica e Medicina TIGEM, Pozzuoli (NA)
- TIGET (Istituto San Raffaele Telethon per la Terapia Genica), Milano
- Zentrum für Kinder- und Jugendmedizin | Dietmar Hopp Stoffwechselzentrum, Arbeitsgruppenleiterin AG Neurotransmitter, Universitätsklinikum Heidelberg, Germania
Dipartimenti aderenti oltre al DSBSC UNIFI
DSS UNIFI; NEUROFARBA, UNIFI
Ultimo aggiornamento
15.07.2026