The past decade has seen genomics contribute fundamental knowledge about biology and its perturbation in disease. Further deepening this understanding will improve diagnosis, prevention and treatment of human disease. Obtaining benefits of genomics, we need to consider various important issues such as the new technologies, multidisciplinary interaction, high throughput data production, computational intensity, high standards for data quality, and attention to societal implications.

Curriculum Vitae

Current appointment:

Senior Researcher and Head of the Clinical Molecular Biology Laboratory

Unit of Genomics for the diagnosis of human pathology;

Clinical Molecular Biology Laboratory, San Raffaele Scientific Institute, Milano

 

Education:

1986 – Degree in Biological Science at the University of Milano, Department of Genetics.

1986-87 Specialized studies in Genetics, University of Pavia.

1987-1991 – Specialized in Biotechnology at the Faculty of Science, Department of Biology, University of Milano

1996-00 – Specialized in Medical Genetics at the Faculty of Medicine, University of Milano.

1987 – Expression of cloned DNA sequences in vitro and in vivo, EMBL Laboratory, Heidelberg – Germany

1989 – International School of Pediatric Sciences and FEBS. Second European School of Medical Genetics, Sestri Levante.

1994 – Wellcome Summer Schools. 13° Advanced course Human Genome Analysis: “From YAC to gene”. University of London (UK).

2005 – Wellcome Trust Genome Campus. Working with Human Genome Sequence. Hinxton Cambridgeshire (UK)

 

Professional experience:

1984-86 – Pre-doctoral laboratory experience, Cytogenetics laboratory of the University of Milano.

1986-88- Professor of Science at the “Liceo Classico Parini” in Milano.

1986-88 – Post-doctoral full-time, C.N.R. Center of Neuroscience, University of Milano.

Since 1988 – Researcher in the Unit of Genomics for the diagnosis of human pathology and Laboratory of Clinical Molecular Biology, San Raffaele Scientific Institute, Milano.

 

Honors and Awards:

1988 – Winner of the Study prize awarded by the “Emilio Trabucchi Foundation”.

1994 – Premio SIBioC, 26° Congresso Nazionale della Società di Biochimica Clinica – Sezione Biochimica Clinica.

 

Appointments:

  • Coordinatore per l’Italia dell’European Community ResearchTraining Network “Neuronal Calcium Channels in Human Disease”.
    dal 01-01-2000 al 01-01-2004
  • Associate dell’ “Education Management Division, Clinical Molecular Biology Curriculum” – International Federation of Clinical Chemistry and Laboratory Medicine (IFCC).
    dal 01-01-2003 al 01-01-2006
  • Collaborazione con il gruppo LOVD dell’Università di Leiden come curatrice di database locus-specifici http://grenada.lumc.nl/LOVD2/FHM e http://grenada.lumc.nl/LOVD2/PKD
    dal 01-01-2004 a oggi
  • “Human Variome Project” working group
    dal 01-06-2008 a oggi
  • Comitato Scientifico Associazione “Un Respiro nel Futuro”
    dal 01-01-2010 a oggi
  • Network italiano GENISAP (Network Italiano per la Genomica in Sanità Pubblica)
    dal 01-01-2010 a oggi
  • Comitato Scientifico di A.I.R.P. (Associazione Italiana Rene Policistico)
    dal 01-01-2010 a oggi
  • Gene/Disease Specific Database Advisory Council (Human Variome Project)
    dal 01-01-2014 a oggi
  • Consorzio ITALSGEN (Consorzio per lo studio della Sclerosi Laterale Amiotrofica)
    dal 01-01-2015 a oggi
  • Gruppo di Lavoro Genetica Oncologica della Società Italiana di Genetica Medica (SIGU)
    dal 01-01-2015 a oggi
  • Gruppo di studio interdisciplinare dell’Associazione Italiana Oncologia Medica (AIOM) e SIGU, SIBIOC, SIAPEC-IAP
    dal 01-01-2015 a oggi
  • Gruppo di Lavoro GINS per la standardizzazione delle metodiche di sequenziamento NGS
    dal 01-01-2016 a oggi
  • Gruppo di Lavoro di Genetica Molecolare della Società Italiana di Genetica Medica (SIGU)
    dal 01-01-2017 a oggi
  • Coordinatore del Gruppo della Società Italiana di Genetica Umana (SIGU) per la Regione Lombardia
    dal 01-01-2018 a oggi

 

Teaching Activity

2001-2006 – non-tenured Professor of Biology at the School of Physiotheraphy, Medical School, Vita-Salute University (Corso integrato di Scienze Biologiche SSD BIO/13, Biologia Applicata).

2004-2015 – Mini-course on Complex Diseases for the course “Diagnostics of Hereditary Diseases” at the School of Biotecnology, Medical School, Vita-Salute University (Corso di Diagnostica delle Malattie Genetiche SSD MED/05 Patologia Cinica).

2004-2015 – Tutorial for the classes of “Clinical Biochemistry and Clinical Molecular Biology” at the School of Medicine, San Raffaele Vita-Salute University (Corso di Medicina di Laboratorio SSD MED/05, Patologia CLinica, MED/07 Microbiologia e Microbiologia Clinica, BIO/12 Biochimica CLinica e Biologia Molecolare Clinica).

2012-present – non-tenured Professor of Clinical Pathology at the School of Dentistry, Vita-Salute University (06/A2 – Patologia Generale e Patologia Clinica (15 ore) nell’ambito del Corso dal titolo “Patologia Clinica”).

Research Activity

Research activity is focused on detection of molecular defect and correlation with clinical features with particular respect to pediatric and neurological disorders in the field of both monogenic and multifactorial traits. The laboratory has a deep experience in molecular genetics and development of advanced protocols particularly in the sequencing and genotyping technologies.

In the frame of the International Human Variome Project, she is involved in creation and maintenance of locus specific and clinical-molecular data-bases aimed to realize a careful and accurate documentation of genome variants related to human disease.

As head of the Laboratory of Clinical Molecular Biology, coordinates a group of 19 people active in the molecular testing of inherited disorders. The Laboratory is certified since 1998.

Publications

Recent Publications

  1. Lattante, S., Pomponi, M.G., Conte, A., Marangi, G., Bisogni, G., Patanella, A.K., Meleo, E., Lunetta, C., Riva, N., Mosca, L., Carrera, P., Bee, M., Zollino, M., Sabatelli, M. ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis (2018) Neurobiology of Aging, 64, pp. 157.e1-157.e5.
  2. Somaschini M, Presi S, Ferrari M, Vergani B, Carrera P. Surfactant proteinsgene variants in premature newborn infants with severe respiratory distress syndrome. J Perinatol. 2017 Dec 19. doi: 10.1038/s41372-017-0018-2.
  3. Solazzo, A., Testa, F., Giovanella, S., Busutti, M., Furci, L., Carrera, P., Ferrari, M., Ligabue, G., Mori, G., Leonelli, M., Cappelli, G., Magistroni, R. The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition (2018) PLoS ONE, 13 (1), art. no. e0190430.
  4. Capo V, Castiello MC, Fontana E, Penna S, Bosticardo M, Draghici E, Poliani LP, Sergi Sergi L, Rigoni R, Cassani B, Zanussi M, Carrera P, Uva P, Dobbs K, Sacchetti N, Notarangelo LD, van Til NP, Wagemaker G, Villa A. Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation. JAllergy Clin Immunol. 2017 Dec 11. pii: S0091-6749(17)31886-9. doi:10.1016/j.jaci.2017.11.015.
  5. Ciammola, A., Carrera, P., Di Fonzo, A., Sassone, J., Villa, R., Poletti, B., Ferrari, M., Girotti, F., Monfrini, E., Buongarzone, G., Silani, V., Cinnante, C.M., Mignogna, M.L., D’Adamo, P., Bonati, M.T. X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene (2017) Parkinsonism and Related Disorders, 44, pp. 142-146.
  6. Camia, F., Pisciotta, L., Morana, G., Schiaffino, M.C., Renna, S., Carrera, P., Ferrari, M., Baglietto, M.G., Veneselli, E., Siri, L., Mancardi, M.M. Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade? (2017) Cephalalgia, 37 (12), pp. 1202-1206.
  7. Pozzi, L., Valenza, F., Mosca, L., Dal Mas, A., Domi, T., Romano, A., Tarlarini, C., Falzone, Y.M., Tremolizzo, L., Sorarù, G., Cerri, F., Ferraro, P.M., Basaia, S., Agosta, F., Fazio, R., Comola, M., Comi, G., Ferrari, M., Quattrini, A., Lunetta, C., Penco, S., Bonanomi, D., Carrera, P., Riva, N. TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: Genetic and functional characterization (2017) Journal of Neurology, Neurosurgery and Psychiatry, 88 (10), pp. 869-875.
  8. Agosta, F., Ferraro, P.M., Riva, N., Spinelli, E.G., Domi, T., Carrera, P., Copetti, M., Falzone, Y., Ferrari, M., Lunetta, C., Comi, G., Falini, A., Quattrini, A., Filippi, M. Structural and functional brain signatures of C9orf72 in motor neuron disease (2017) Neurobiology of Aging, 57, pp. 206-219.
  9. Somaschini, M., Presi, S., Ferrari, M., Vergani, B., Carrera, P. Genetic surfactant dysfunction in newborn infants and children with acute and chronic lung disease (2017) Journal of Pediatric and Neonatal Individualized Medicine, 6 (1), art. no. e060134.
  10. Pinto, C., Bella, M.A., Capoluongo, E., Carrera, P., Clemente, C., Colombo, N., Cortesi, L., De Rosa, G., Fenizia, F., Genuardi, M., Gori, S., Guarneri, V., Marchetti, A., Marchetti, P., Normanno, N., Pasini, B., Pignata, S., Radice, P., Ricevuto, E., Russo, A., Tagliaferri, P., Tassone, P., Truini, M., Varesco, L. Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients(2016) Future Oncology, 12 (18), pp. 2071-2075.
  11. Carrera, P., Calzavara, S., Magistroni, R., Den Dunnen, J.T., Rigo, F., Stenirri, S., Testa, F., Messa, P., Cerutti, R., Scolari, F., Izzi, C., Edefonti, A., Negrisolo, S., Benetti, E., Alibrandi, M.T.S., Manunta, P., Boletta, A., Ferrari, M. Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2016) Scientific Reports, 6, art. no. 30850,
  12. Bersano, A., Markus, H.S., Quaglini, S., Arbustini, E., Lanfranconi, S., Micieli, G., Boncoraglio, G.B., Taroni, F., Gellera, C., Baratta, S., Penco, S., Mosca, L., Grasso, M., Carrera, P., Ferrari, M., Cereda, C., Grieco, G., Corti, S., Ronchi, D., Bassi, M.T., Obici, L., Parati, E.A., Pezzini, A., De Lodovici, M.L., Verrengia, E.P., Bono, G., Mazucchelli, F., Zarcone, D., Calloni, M.V., Perrone, P., Bordo, B.M., Colombo, A., Padovani, A., Cavallini, A., Beretta, S., Ferrarese, C., Motto, C., Agostoni, E., Molini, G., Sasanelli, F., Corato, M., Marcheselli, S., Sessa, M., Comi, G., Checcarelli, N., Guidotti, M., Uccellini, D., Capitani, E., Tancredi, L., Arnaboldi, M., Incorvaia, B., Tadeo, C.S., Fusi, L., Grampa, G., Merlini, G., Trobia, N., Comi, G.P., Braga, M., Vitali, P., Baron, P., Grond-Ginsbach, C., Candelise, L. Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry (2016) Stroke, 47 (7), pp. 1702-1709.
  13. Chiò, A., Mora, G., Sabatelli, M., Caponnetto, C., Lunetta, C., Traynor, B.J., Johnson, J.O., Nalls, M.A., Calvo, A., Moglia, C., Borghero, G., Trojsi, F., La Bella, V., Volanti, P., Simone, I., Salvi, F., Logullo, F.O., Riva, N., Carrera, P., Giannini, F., Mandrioli, J., Tanel, R., Capasso, M., Tremolizzo, L., Battistini, S., Murru, M.R., Origone, P., Zollino, M., Penco, S., Mazzini, L., D’Alfonso, S., Restagno, G., Brunetti, M., Barberis, M., Conforti, F.L., Logroscino, G., Bartolomei, I., Mancardi, G., Mandich, P., Marinou, K., Sideri, R., Mosca, L., Lauria Pinter, G., Corbo, M., Fini, N., Fasano, A., Arosio, A., Ferrarese, C., Tedeschi, G., Monsurrò, M.R., Piccirillo, G., Femiano, C., Bersano, A., Corrado, L., Bagarotti, A., Spataro, R., Colletti, T., Conte, A., Luigetti, M., Lattante, S., Marangi, G., Santarelli, M., Petrucci, A., Ricci, C., Benigni, M., Casale, F., Marrali, G., Fuda, G., Ossola, I., Cammarosano, S., Ilardi, A., Manera, U., Bertuzzo, D., Tanel, R., Pisano, F., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Marrosu, F., Marrosu, M.G., Floris, G., Cannas, A., Cuccu, S., Tranquilli, S., Ticca, A., Pugliatti, M., Pirisi, A., Parish, L.D., Occhineri, P., Ortu, E., Cau, T.B., Loi, D. ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion (2016) Neurobiology of Aging, 39, pp. 218.e5-218.e8.
  14. Carrera, P., Di Resta, C., Volonteri, C., Castiglioni, E., Bonfiglio, S., Lazarevic, D., Cittaro, D., Stupka, E., Ferrari, M., Somaschini, M., Magaldi, R., Rinaldi, M., Maffei, G., Stronati, M., Tzialla, C., Borghesi, A., Tagliabue, P., Fedeli, T., Citterio, M., Mosca, F., Colnaghi, M., Lavizzari, A., Agosti, M., Francescato, G., Pomero, G., Dalmazzo, C., Boldrini, A., Scaramuzzo, R., Bertino, E., Borgione, S., Martano, C., Carnielli, V., Nobile, S., Auriemma, A., Bellan, C., Carrera, G., Zambetti, C., Pucello, R., Palatta, S. Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study (2015) Clinica Chimica Acta, 451, pp. 39-45.