Download Present positions: Associate Professor of Endocrinology at the

Persani, 1
Present positions: Associate Professor of Endocrinology at the Department of Clinical Sciences & Community Health (previous Medical Sciences), School of Medicine, University of Milan; Head of the Division of Endocrine and Metabolic Diseases & Lab of Endocrine and Metabolic Research, IRCCS Istituto Auxologico Italiano; Piazzale Brescia 20, Milano – Italia Clinical Unit: 9 Endocrinologists; 2 Residents; 1 Psychiatrist; 3 Psychologists; 3 Nurses. Ten Day-­‐Hospital beds for diagnostic, therapeutic and rehabilitation purposes. Research Unit: 1 Associate Professor, 1 Assistant Professors; 8 Post-­‐Docs; 1 PhD student; 1 Technician. Education & Previous Positions 1987 M.D., Faculty of Medicine, University of Milan, Italy 1990 Stage at the Research Lab of SCLAVO Diagnostics, Cassina de Pecchi, Italy (Set up of methods for glycoprotein hormone purification) 1992 Postgraduate Degree in Endocrinology and Metabolic Diseases, University of Milan 1996 Ph.D. in Endocrine and Metabolic Sciences, University of Milan 1996-­‐2001 Research Consultant, IRCCS Istituto Auxologico Italiano, Milan 1998 Visiting Scientist at the Division of Reproductive Biology, Obs/Gyn Department, Stanford University, USA Research interests and skills: L.P. is a Translational Researcher with particular interest devoted to the identification and characterization of the biological mechanisms and genes relevant for development and function of pituitary, thyroid and gonads. L.P. used an array of experimental approaches to test cell lines and tissues of animal and human origin as models of human diseases. Biotechnologies available in the post-­‐genomic era have been employed in these studies. Recently the Lab has acquired a zebrafish facility for the exploitation of this model for morphogenetic and other in vivo studies. L.P. significantly contributed to the discovery of several pathogenic mechanisms and/or candidate genes in the field of Congenital Hypothyroidism, Idiopathic Hypopituitarism including Central Hypogonadism, and Primary Ovarian Failure. L.P. is presently coordinating the Italian Network for the genetic diagnosis of Idiopathic Central Hypogonadism under the auspices of the Italian Societies of Adult and Pediatric Endocrinology, and is a member of the Managing Committee and of the Genetic Working Group of the European COST Action BM1105 GnRH deficiency: Elucidation of the neuroendocrine control of human reproduction. Ordinary member of the Italian Society of Endocrinology (SIE), Italian Society of Medical Andrology and Sexual Medicine (SIAMS), European Society of Endocrinology (ESE), Endocrine Society USA, European Thyroid Association (ETA), Associazione Italiana della Tiroide (AIT), Associazione Medici Endocrionologi (AME). Editorial Boards: Journal of Clinical Endocrinology and Metabolism, Thyroid, European Thyroid Journal, Thyroid Disease Manager (www.thyroidmanager.org), Faculty of 1000Medicine. Previous appointments: Molecular and Cellular Endocrinology (2005-­‐2014); Pituitary; Journal of Endocrinological Investigation; Hot Thyroidology (editor-­‐in-­‐chief) Reviewer for Research Projects of Wellcome Trust, UK; Wellbeing Of Women/RCOG Research, UK; March of Dimes, USA; PHRC, France. Reviewer for several journals including: New England Journal of Medicine, Lancet Endocrinology & Metabolism, Journal of Medical Genetics, American Journal of Human Genetics, Journal of Clinical Endocrinology and Metabolism, Endocrinology, Molecular Endocrinology, Endocrine Related Cancer, Pediatric Research, European Journal of Endocrinology, Journal of Pediatrics, Fertility and Sterility, Molecular Human Reproduction, Nature Reviews Endocrinology, Nature Communications. Awards and Honours: •
Award for Distinguished Scientific Production of the IRCCS Istituto Auxologico Italiano in 1998. •
“Piergiorgio Chiodini” Award for NeuroEndocrinology Research of the Italian Society for NeuroSciences (SINS) in 1999. •
Award for Best Article 2014 in Journal of Clinical Endocrinology and Metabolism •
Invited Lectures: Erasmus University of Rotterdam (2010); University of Lleiden (2013); University of Padova (2013); University of Brescia (2012,2014); University of Florence (2012-­‐2014) •
Invited Lectures at >90 National and International Congresses (including ITC, ES, BES, ECE, ICE), •
Italian Representative in the Scholar Program for young Post-­‐Doc fellows of the European Society of Endocrinology (IESP-­‐ESE) Member of Executive Committee 5/2009-­‐7/2013 and Coordinator of the Scientific Committee 9/2011-­‐7/2013) of the Italian Society of Endocrinology (SIE) Current fundings: • Italian Ministry of Health • Ricerca Corrente funds of Istituto Auxologico Italiano • Telethon Foundation • Novartis Oncology Persani, 2
• IBSA Italia • Merck-­‐Serono Bibliometrics • Full Articles on ‘peer reviewed’ Scientific Journals reported by Web of Science/ Scopus/ PubMed: n=179; • Total Impact Factor: >1000 • Chapters in International Textbooks (English, American and French): n=41; • Citations in Scopus: 4940; h index: 40; Citations in ISI-­‐WoS: 4391; h index: 38 Selection of recent relevant articles (January 2015) 1: Passeri E, et al. Wasting syndrome with deep bradycardia as presenting manifestation of long-­‐standing severe male hypogonadotropic hypogonadism: a case series. BMC Endocr Disord. 2014 Sep 27;14:78. 2: Persani L, Bonomi M. Uncertainties in endocrine substitution therapy for central endocrine insufficiencies: hypothyroidism. Handb Clin Neurol. 2014;124:397-­‐405. 3: Persani L, Rossetti R, Di Pasquale E, Cacciatore C, Fabre S. The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders. Hum Reprod Update. 2014 Nov-­‐Dec;20(6):869-­‐83. 4: Refetoff S, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. J Clin Endocrinol Metab. 2014 Mar;99(3):768-­‐70. 6: Mian C, et al. Refining calcium test for the diagnosis of medullary thyroid cancer: cutoffs, procedures, and safety. J Clin Endocrinol Metab. 2014 May;99(5):1656-­‐64. 7: Andrioli M, Persani L. Elastographic techniques of thyroid gland: current status. Endocrine. 2014 Aug;46(3):455-­‐61. 8: Muzza M, et al. The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. J Clin Endocrinol Metab. 2014 Mar;99(3):E544-­‐53. 9: Castronovo C, et al. Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome. Hum Reprod. 2014 Feb;29(2):368-­‐79. 10: Dicitore A, et al. Type I interferon-­‐mediated pathway interacts with peroxisome proliferator activated receptor-­‐γ (PPAR-­‐γ): at the cross-­‐road of pancreatic cancer cell proliferation. Biochim Biophys Acta. 2014 Jan;1845(1):42-­‐52. 11: Vitale G, Gaudenzi G, Dicitore A, Cotelli F, Ferone D, Persani L. Zebrafish as an innovative model for neuroendocrine tumors. Endocr Relat Cancer. 2014 Jan 21;21(1):R67-­‐83. 12: Libri DV, et al. Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways.J Clin Endocrinol Metab. 2014 Mar;99(3):E458-­‐63. 13: Auclair S, et al. Positive selection in bone morphogenetic protein 15 targets a natural mutation associated with primary ovarian insufficiency in human. PLoS One. 2013 Oct 16;8(10):e78199. 14: Joustra SD, et al. The IGSF1 deficiency syndrome: characteristics of male and female patients. J Clin Endocrinol Metab. 2013 Dec;98(12):4942-­‐52. 15: Morelli A, et al. Metabolic syndrome induces inflammation and impairs gonadotropin-­‐releasing hormone neurons in the preoptic area of the hypothalamus in rabbits. Mol Cell Endocrinol. 2014 Jan 25;382(1):107-­‐19. 16: Demars J, et al. Genome-­‐wide association studies identify two novel BMP15 mutations responsible for an atypical hyperprolificacy phenotype in sheep. PLoS Genet. 2013 Apr;9(4):e1003482. 17: Andrioli M, et al. Standardized Ultrasound Report for Thyroid Nodules: The Endocrinologist's Viewpoint. Eur Thyroid J. 2013 Mar;2(1):37-­‐48. d 18: Rabbiosi S, et al. Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-­‐evaluation. J Clin Endocrinol Metab. 2013 Apr;98(4):1395-­‐402.. 19: Porcu E, et al. A meta-­‐analysis of thyroid-­‐related traits reveals novel loci and gender-­‐specific differences in the regulation of thyroid function. PLoS Genet. 2013;9(2):e1003266. 20: Bonomi M, Persani L. Modern methods to investigate the oligomerization of glycoprotein hormone receptors (TSHR, LHR, FSHR). Methods Enzymol.2013;521:367-­‐83. 21: Sun Y, et al. Loss-­‐of-­‐function mutations in IGSF1 cause an X-­‐linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet. 2012 Dec;44(12):1375-­‐81 22: Paschke R, et al. 2012 European thyroid association guidelines for the management of familial and persistent sporadic non-­‐autoimmune hyperthyroidism caused by thyroid-­‐stimulating hormone receptor germline mutations. Eur Thyroid J. 2012 Oct;1(3):142-­‐7. 23: Porazzi P, et al. Disruptions of global and JAGGED1-­‐mediated notch signaling affect thyroid morphogenesis in the zebrafish. Endocrinology. 2012 Nov;153(11):5645-­‐58. 24: Bonomi M, et al. Blood cell mitochondrial DNA content and premature ovarian aging. PLoS One. 2012;7(8):e42423. 25: Persani L. Clinical review: Central hypothyroidism: pathogenic, diagnostic, and therapeutic challenges. J Clin Endocrinol Metab. 2012 Sep;97(9):3068-­‐78. Persani, 3
26: Persani L. Congenital Hypothyroidism with Gland in situ is More Frequent than Previously Thought. Front Endocrinol (Lausanne). 2012 Feb 15;3:18 27: Cirello V, et al. Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss. Mol Cell Endocrinol. 2012 Apr 4;351(2):342-­‐50. 28: Persani L, et al. Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis. J Autoimmun. 2012 May;38(2-­‐3):J193-­‐6. 29: Bonomi M, et al; Idiopathic Central Hypogonadism Study Group of the Italian Societies of Endocrinology and Pediatric Endocrinology and Diabetes. New understandings of the genetic basis of isolated idiopathic central hypogonadism. Asian J Androl.2012 Jan;14(1):49-­‐56. 30: Calebiro D, et al Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia. J Clin Endocrinol Metab. 2012 Jan;97(1):E156-­‐60. 31: Lucchi S, et al. 8-­‐Chloro-­‐cyclic AMP and protein kinase A I-­‐selective cyclic AMP analogs inhibit cancer cell growth through different mechanisms. PLoS One. 2011;6(6):e20785. 32: Passeri E, et al. Increased risk for non-­‐autoimmune hypothyroidism in young patients with congenital heart defects. J Clin Endocrinol Metab. 2011 Jul;96(7):E1115-­‐9. 33: Calebiro D, et al. Absence of primary hypothyroidism and goiter in Slc26a4 (-­‐/-­‐) mice fed on a low iodine diet. J Endocrinol Invest. 2011 Sep; 34(8):593-­‐8. 34: Persani L, Rossetti R, Cacciatore C. Genes involved in human premature ovarian failure. J Mol Endocrinol. 2010 Nov;45(5):257-­‐79. 35: Calebiro D, et al. Signaling by internalized G-­‐protein-­‐coupled receptors. Trends Pharmacol Sci. 2010 May;31(5):221-­‐
8. 36: Persani L, et al. Genetics and phenomics of hypothyroidism due to TSH resistance. Mol Cell Endocrinol. 2010 Jun 30;322(1-­‐2):72-­‐82. 37: Muzza M, et al Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro. Eur J Endocrinol. 2010 Apr;162(4):771-­‐7. 38: Calebiro D, et al. Persistent cAMP-­‐signals triggered by internalized G-­‐protein-­‐coupled receptors. PLoS Biol. 2009 Aug;7(8):e1000172. 39: Porazzi P, et al. Thyroid gland development and function in the zebrafish model. Mol Cell Endocrinol. 2009 Nov 27;312(1-­‐2):14-­‐23. 40: Persani L, et al. Primary Ovarian Insufficiency: X chromosome defects and autoimmunity. J Autoimmun. 2009 Aug;33(1):35-­‐41. 41: Rossetti R, et al. BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Hum Mutat. 2009 May;30(5):804-­‐10. 42: Bonomi M, et al. A family with complete resistance to thyrotropin-­‐releasing hormone. N Engl J Med. 2009 Feb 12;360(7):731-­‐4.