Ricerca Gruppi di ricerca e contributi alla ricercaThe Section of Clinical PathophysiologyGruppo La Marca

Gruppo La Marca

 

Coordinator of Research Team

Name…GIANCARLO LA MARCA……………………………………………….

Position Associate Professor

Name of Research Team/Laboratory Newborn Screening, Clinical Chemistry and Pharmacology Lab

e-mail…giancarlo.lamarca@unifi.it; g.lamarca@meyer.it…………………………………………….

telephone number……055-5662988; 055-5662492; 0555662541………………………………………………………………..

 

  

                                                               

  

Brief biographical sketch of the Coordinator

PERSONAL DATA
-Date and Place of Birth:      February 22nd 1974 - Manfredonia (FG), Italy

-Nationality and Status: Italian citizen, married, one child

-Graduation:    Pharmaceutical Chemistry and Technology, Summa Cum Laude, University of Florence, Italy - 2000

-Specialization in Pharmacy Hospital, Summa Cum Laude, University of Florence, Italy- 2005

  

Member of the following Scientific Societies

1) Member and current President of Italian Society for Newborn Screening and Metabolic diseases (SIMMESN)………………………………………………………………………………..

            2)Member of the Italian Society of Clinical Biochemistry and Clinical Molecular Biology……………………….........................................................

 Research Team

Deputy Head: Giancarlo la Marca

• Silvia Funghini, BS, PhD, specialista in Biochimica Clinica
• Sabrina Malvagia, BS, PhD, specialista in Biochimica Clinica
• Bruno Casetta, chimico
• Maria Luisa Della Bona, chimico farmaceutico
• Giulia Forni, biotecnologo, specialista in Biochimica Clinica
• Daniela Ombrone, BS, specialista in Biochimica Clinica
• Fabio Villanelli, BS, biologo e TSLB
• Fabiano Cappellini, tecnico sanitario di laboratorio biomedico
• Anna Messeri, tecnico sanitario di laboratorio biomedico
• Antonella Paoli tecnico sanitario di laboratorio biomedico
• Sara Peli, tecnico sanitario di laboratorio biomedico
• Stefania Bechini, tecnico sanitario di laboratorio biomedico
• Paola Meloni, tecnico sanitario di laboratorio biomedico
• Sara Poggiali, tecnico sanitario di laboratorio biomedico

 Current research interests 

• Pediatric Metabolic Disorders
• Newborn Screening
• Pediatric Clinical Chemistry
• Pharmacokinetics in pediatrics

 

Current / recent sources of funding

            -2010-17: Early diagnosis of severe combined immunodeficiency due to adenosine deaminase defect: a new simple and reliable method by tandem mass spectrometry: “Ricerca regionale in materia di salute 2009”, Tuscany Region. Coordinator of the project

-2010-17: Drug treatment and neuroprotection in hypoxic-ischemic brain injury and neonatal-infantile seizures: 1) Pharmacokinetic and dose-finding study using a new tandem mass spectrometry micromethods; 2) Efficacy and tolerability profile; 3) Experimental in vitro and in vivo animal models. “Ricerca regionale in materia di salute 2009”, Tuscany Region. Workpackage Coordinator

-2011-2017: Ministry of Healt Project GR-2011-02346985: Neurological and behavioral abnormalities in Adenosine Deaminase-deficiency and their correction by therapeutical approaches. Workpackage Coordinator

-2011-2017: Ministry of Healt Project NET 2011-023500694: Novel approaches for newborn screening of primary immunodeficiencies. Workpackage coordinator

- 2014-2019 7th JOINT CALL FOR EUROPEAN RESEARCH PROJECTS ON RARE DISEASES (JTC 2015): Preparing for therapies in autosomal recessive ataxias.

 

10 best publications of the last 5 years

 

1. 71) la Marca G, Malvagia S, Materazzi S, Della Bona ML, Boenzi S, Martinelli D, Dionisi-Vici C. LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I. Anal Chem. 2012; 84:1184-8. (IF: 5.695)
2. Nassini R, Materazzi S, Vriens J, Prenen J, Benemei S, De Siena G,. la Marca G, Andrè E, Preti D, Avonto C, Di Marzo V, De Petrocellis L, Dussor G, Porreca F, Taglialatela-Scafati O, Appendino G, Nilius B, Geppetti P. The ‘headache tree’, via umbellulone and trpa1, activates the trigeminovascular system. Brain. 2012; 135(Pt 2):376-90. (IF: 9.915)
3. Speckmann C, Neumann C, Borte S, la Marca G, Sass JO, Wiech E, Fisch P, Schwarz K, Buchholz B, Schlesier M, Felgentreff K. Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis. J Allergy Clin Immunol. 2012;130:991-4. (IF: 12.047)
4. Peired A, Angelotti ML, Ronconi E, la Marca G, Mazzinghi B, Sisti A, Lombardi D, Giocaliere E, Della Bona ML, Villanelli F, Parente E, Ballerini L, Sagrinati C, Lazzeri E, Lasagni L, Romagnani P. Proteinuria impairs glomerular repair by sequestering retinoic acid. J Am Soc Nephrol. 2013 Nov;24(11):1756-68. doi: 10.1681/ASN.2012090950. (IF: 8.98)
5. la Marca G; Canessa C; Giocaliere E, Romano F, Duse M, Malvagia S, Lippi F, Funghini S, Bianchi L, Della Bona ML, Valleriani C, Ombrone D, Moriondo M, Villanelli F, Speckmann C, Adams S, Gaspar BH, Hershfield M, Santisteban I, Fairbanks L, Ragusa G, Resti M, de Martino M, Guerrini R, Azzari C. Tandem mass spectrometry but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency, J Allergy Clin Immunol. 2013 Jun;131(6):1604-10. (IF: 12.047)
6. Parenti G, Fecarotta S, la Marca G, Rossi B, Ascione S, Donati MA, Morandi LO, Ravaglia S, Pichiecchio A, Ombrone D, Sacchini M, Pasanisi MB, De Filippi P, Danesino C,Della Casa R, Romano A, Mollica C, Rosa M, Agovino T, Nusco E, Porto C, Andria G.  MD1A chaperone enhances blood alpha-glucosidase activity in pompe disease patients treated with enzyme replacement therapy, Mol Ther. 2014 Nov;22(11):2004-12. (I.F. 7.041)
7. la Marca G, Canessa C, Giocaliere E, Romano F, Moriondo M, Lippi F, Ombrone D, Della Bona ML, Speckmann C, Borte S, Brodszki N,. Gennery AR, Weinacht K, Celmeli F, Pagel J, de Martino M, Guerrini R, Hershfield M, Notarangelo LD, Resti M and Azzari C, Diagnosis of severe combined immunodeficiency caused by purine nucleoside phosphorylase defect on dried blood spots: a reliable method using tandem mass spectrometry. J Allergy Clin Immunol. 2014 Jul;134(1):155-159. (IF: 12.047)
8. Rissone A, Weinacht K, la Marca G, Bishop K, Giocaliere E, Jagadeesh J, Felgentreff K, Dobbs K, Al-Herz W, Jones M, Itan Y, Schambach A, Sood R, Notarangelo LD and Candotti F. Antioxidant Treatment Rescues Hematopoietic Phenotypes in Cellular and Animal Models of Reticular Dysgenesis.  J Exp Med. 2015 Jul 27;212(8):1185-202. (I.F. 13.912)
9. Ombrone D, Giocaliere E, Forni G, Malvagia S, la Marca G, Expanded Newborn Screening by Mass Spectrometry: new tests, future perspectives. Mass Spectrom Rev. 2016 Jan;35(1):71-84. (I.F. 9,346)
10. Musumeci O, la Marca G, Spada M, S. Mondello, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G,Angelini C, Mongini T, Toscano A and the Italian GSD II group. LOPED Study: looking for an early diagnosis in a late onset Pompe Disease high-risk population, J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):5-11 (I.F. 6,431)

 

 

Previous research experiences

2005: Odense, Faculty of Pharmacy

2011: Utah School of Medicine

2011: ARUP Lab, Utah, USA

 

Main scientific contributions

 

- PCT EP 076859: Method and Kit for determining metabolites on dried blood spot.

- PCT WO2008137868/EP2155185: Detecting Succinylacetone

- PCT WO/2011/080725: Compounds with both analgesic and anti-hyperalgesic efficacy.

- PTIT11990: New compounds with both allodinic and anti-hyperalgesic activity

- PTIT 10886: Eye Drops for the administration of beta-2-blockers for the treatment of proliferative retinopathies.

-American Academy of Immunology: award for “one of the best research on immunodefiencies of the year 2013”

-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”.

 

 

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, Tigem, 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

Other relevant information

Prof la Marca has been an invited lecturer to more than 100 national and international meetings and he has authored more than 140 peer-reviewed publications and 5 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 >500; H Index 34