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SBSC Dipartimento di Scienze Biomediche Sperimentali e Cliniche

Gruppo Giglio

Coordinator of Research Team

Sabrina Rita Giglio

Associated Professor

Medical Genetics Unit University of Florence, Medical Genetics Unit Meyer Children's Hospital Florence

e-mail  sabrinarita.giglio@unifi.it

telephone number +39 055 5662216

 

 

 

Brief biographical sketch of the Coordinator 

 

Sabrina Giglio 29.06.1966,  MD , PhD

2005 Associated Professor at the University of Florence

2001 PhD in Medical Genetics Department of Human Genetics University of Chicago

2000 Ph.D. in "Human and Ereditary Pathology" at the University of Pavia

1999 United States Medical Licensing

1997 Degree in "Medical Genetics" at the University of Pavia

1992 Degree in Medicine at the Faculty of Medicine and Surgery University of Sassari

 

 

Member of the scientific board of the Doctorate/PhD Program in

DOTTORATO DI RICERCA IN GENETICA, ONCOLOGIA E MEDICINA CLINICA (GENOMEC)

 

Member of the following Scientific Societies

 

1) SIGU Società Italiana Genetica Umana

                2) ESHG European Society of Human Genetics

                3) SIEOG Società Italiana di Ecografia Ostetrico Ginecologica

 

Research Team

                1)  Aldesia Provenzano, PhD, 11.08.1982

                2)  Paolo Reho, PhD, 25.06.1985

                3)  Emanuele Bosi, PhD, 19.10.1987

                4) Viviana Palazzo, BS, 25.08.1985

                5) Andrea La Barbera, BS, 04.06.1984

                6) Samuela Landini, BS, 16.05.1984

                7) Angelica Pagliazzi, MD, 24.01.1991

 

Current research interests 

 

Genetics of kidney diseases (Nephrotic syndrome, CAKUT, glomerulosclerosis, tubulopathies)

Identification and analysis of cell free DNA isolated from different body fluids

Complex genomic rearrangement

Pediatric brain tumors

MODY and no-MODY Monofactorial/Type 2 Diabetes

Genetics of Obesity

 

Current / recent sources of funding

1)      SMART FAS Regione toscana

2)      2016 Early Evaluation Program for the Third Generation Clinical Application (PacBio-Roche)

3)      European networks of reference for rare diseases (ERNs) for the study of kidney disease

10 best publications of the last 5 years

 

1) Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression. Giglio S, Provenzano A, Mazzinghi B, Becherucci F, Giunti L, Sansavini G, Ravaglia F, Roperto RM, Farsetti S, Benetti E, Rotondi M, Murer L, Lazzeri E, Lasagni L, Materassi M, Romagnani P. J Am Soc Nephrol. 2015 Jan;26(1):230-6. doi: 10.1681/ASN.2013111155. Epub 2014 Jul 24

 

2) Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide   copy number analysis. Giunti L, Buccoliero AM, Pantaleo M, Lucchesi M, Provenzano A, Palazzo V, Guarducci S, Guidi M, Genitori L, Zuffardi O, Sardi I, Giglio S. Am J Cancer Res. 2016 Dec 1;6(12):2910-2918. eCollection 2016.

 

3) Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? Becherucci F, Mazzinghi B, Provenzano A, Murer L, Giglio S, Romagnani P. J Nephrol. 2016 Aug;29(4):543-50. doi: 10.1007/s40620-016-0315-4. Epub 2016 May 21. Review.

 

4) Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders. Lazzeri E, Ronconi E, Angelotti ML, Peired A, Mazzinghi B, Becherucci F, Conti S, Sansavini G, Sisti A, Ravaglia F, Lombardi D, Provenzano A, Manonelles A, Cruzado JM, Giglio S, Roperto RM, Materassi M, Lasagni L, Romagnani P. J Am Soc Nephrol. 2015 Aug;26(8):1961-74. doi: 10.1681/ASN.2014010057. Epub 2015 Jan 7

 

5) Genome-wide copy number analysis in pediatric glioblastoma multiforme. Giunti L, Pantaleo M, Sardi I, Provenzano A, Magi A, Cardellicchio S, Castiglione F, Tattini L, Novara F, Buccoliero AM, de Martino M, Genitori L, Zuffardi O, Giglio S. Am J Cancer Res. 2014 May 26;4(3):293-303. eCollection 2014

 

6) De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s. Rossi E, Giorda R, Bonaglia MC, Candia SD, Grechi E, Franzese A, Soli F, Rivieri F, Patricelli MG, Saccilotto D, Bonfante A, Giglio S, Beri S, Rocchi M, Zuffardi O. PLoS One. 2012;7(6):e39180. doi: 10.1371/journal.pone.0039180. Epub 2012 Jun 1

 

7) The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. Palazzo V, Provenzano A, Becherucci F, Sansavini G, Mazzinghi B, Orlandini V, Giunti L, Roperto RM, Pantaleo M, Artuso R, Andreucci E, Bargiacchi S, Traficante G, Stagi S, Murer L, Benetti E, Emma F, Giordano M, Rivieri F, Colussi G, Penco S, Manfredini E, Caruso MR, Garavelli L, Andrulli S, Vergine G, Miglietti N, Mancini E, Malaventura C, Percesepe A, Grosso E, Materassi M, Romagnani P, Giglio S. Kidney Int. 2017 May;91(5):1243-1255. doi: 10.1016/j.kint.2016.12.017. Epub 2017 Feb 21.

 

8) Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes.

Artuso R, Provenzano A, Mazzinghi B, Giunti L, Palazzo V, Andreucci E, Blasetti A, Chiuri RM, Gianiorio FE, Mandich P, Monami M, Mannucci E, Giglio S. Pharmacogenomics J. 2015 Feb;15(1):49-54. doi: 10.1038/tpj.2014.37. Epub 2014 Jul 22.

 

9) Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.

Bargiacchi S, Della Monica M, Biagiotti R, Andreucci E, Ciabattoni S, Poggi P, Di Maurizio M, Defilippi C, Cariati E, Giglio S. Eur J Med Genet. 2017 Apr 13. pii: S1769-7212(16)30309-3. doi: 10.1016/j.ejmg.2017.04.007. [Epub ahead of print]

 

10) Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH. Vetro A, Godin D, Lesende I, Limongelli I, Ranzani GN, Novara F, Bonaglia MC, Rinaldi B, Franchi F, Manolakos E, Lonardo F, Scarano F, Scarano G, Costantino L, Tedeschi S, Giglio S, Zuffardi O. Clin Genet. 2017 May 30. doi: 10.1111/cge.13060.

 

Previous research experiences

Sabrina Giglio has always being involved in the diagnosis of genomic imbalances in subjects with psychomotor delay/mental disability/congenital malformations. In 2011 and 2012, she published two of the first papers linking a specific pathogenic condition to a specific chromosomal imbalance

(invdup8p) thus gaining international reputation. She demonstrated the role of inversion polymorphism in generating recurrent rearrangements.

Moreover, in 2015 she published an important paper about a new genetic screening test that help predict which patients with one of the most common childhood kidney diseases will respond to standard therapies.

 

Main scientific contributions

Sabrina Giglio lab and clinical center is among the best European ones for the application and interpretation of genome wide array both in postnatal diagnosis. Presently the laboratory is experiencing the big diagnostic revolution of next generation sequencing thanks also to the acquirement of a small team of bioinformaticians.

 

Collaborations

 

Prof Zuffardi Medical Gentics University of Pavia

Prof Romagnani Neprhology Unit University of Florence

Dott Genitori Neurosurgery Meyer Childrens' Hospital

Prof Delledonne Dept Biotechnology University of Verona

Prof. Joris Vermeesch University of Leuven

SKELDYS Italia

Fondazione ANDE

EUROCAT

AIEOP

Network Italiano delle Displasie Scheletriche

 
ultimo aggiornamento: 26-Set-2017
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