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 diagnostics of human pathologies;

Clinical Molecular Biology Laboratory, Laboraf



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, directed by Prof. G. Simoni.

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

1986-88 – Post-doctoral full-time, C.N.R. Center of Neuroscience in the Laboratory directed by Prof. N. Borgese


Honors and Awards:

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



2000-2004 Member and coordinator for Italy of the European Community ResearchTraining Network “Neuronal Calcium Channels in Human Disease”.

2003-2005 Associate Member of the “Education Management Division, Clinical Molecular Biology Curriculum” – International Federation of Clinical Chemistry and Laboratory Medicine (IFCC).

2004-present Member of the Human Variome Project.

2010-present Member of the Scientific Board of A.I.R.P. (Associazione Italiana Rene Policistico)

Teaching activity

2001-2007 – non-tenured Professor of Biology at the School of Physiotheraphy, Medical School at the Vita e Salute University.

2004-present – Mini-course on Complex Diseases for the course “Diagnostics of Hereditary Diseases” of the Vita-Salute Biotecnology Faculty held by Prof. M. Ferrari.

2002-present – Tutorial for the classes of “Clinical Biochemistry and Clinical Molecular Biology” for the students of the San Raffaele Vita e Salute School of Medicine, held by Prof. P.A. Bonini.

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 more than 70 inherited disorders. The Laboratory is certified since 1998.


Paola Carrera is author of more than 200 publications, over 70 on peer reviewed journals.


Haworth A, Bertram L, Carrera P, Elson JL, Braastad CD, Cox DW, Cruts M, den

Dunnen JT, Farrer MJ, Fink JK, Hamed SA, Houlden H, Johnson DR, Nuytemans K,

Palau F, Rayan DL, Robinson PN, Salas A, Schüle B, Sweeney MG, Woods MO, Amigo J, Cotton RG, Sobrido MJ. Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics. 2011 Jun 1. [Epub ahead of print] PubMed PMID: 21630033.


Battistini S, Ricci C, Giannini F, Calzavara S, Greco G, Del Corona A, Mancuso M, Battistini N, Siciliano G, Carrera P. G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype. Amyotroph Lateral Scler. 2010; 11:210-215.


Cotton RG, Al Aqeel AI, Al-Mulla F, Carrera P, Claustres M, Ekong R, Hyland

VJ, Macrae FA, Marafie MJ, Paalman MH, Patrinos GP, Qi M, Ramesar RS, Scott RJ, Sijmons RH, Sobrido MJ, Vihinen M; members of the Human Variome Project Data Collection from Clinics, Data Collection from Laboratories and Publication,

Credit and Incentives Working Groups. Capturing all disease-causing mutations forclinical and research use: toward an effortless system for the Human Variome

Project. Genet Med. 2009 Dec;11(12):843-9.

Gerola S, Battistini S, Stenirri S, Nicolodi M, Arnetoli G, Canova S, Binelli G, Bernardi A, Balan S, Ferrari M, Carrera P. CACNA1A gene non-synonymous single nucleotide polymorphisms and common migraine in

Italy: a case-control association study with a micro-array technology. Clin Chem Lab Med. 2009;47(6):783-5.

Bordoni R, Bonnal R, Rizzi E, Carrera P, Benedetti S, Cremonesi L, Stenirri S, Colombo A, Montrasio C, Bonalumi S, Albertini A, Rossi Bernardi L, Ferrari M, de Bellis G. Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer. BMC Genomics. 2008;9:464.

Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT. Recommendations for locus-specific databases and their curation. Hum Mutat. 2008 Jan;29(1):2-5.


Cotton RG, Auerbach AD, Brown AF, Carrera P, Christodoulou J, Claustres M, Compton J, Cox DW, De Baere E, den Dunnen JT, Greenblatt M, Fujiwara M, Hilbert P, Jani A, Lehvaslaiho H, Nebert DW, Verma I, Vihinen M; Members of the Human Genome Variation Society; Human Variome Project Diagnostic Laboratory Working Group. A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases. Hum Mutat. 2007 Oct;28(10):931-2.


Somaschini M, Nogee LM, Sassi I, Danhaive O, Presi S, Boldrini R, Montrasio C, Ferrari M, Wert SE, Carrera P. Unexplained neonatal respiratory distress due to congenital surfactant deficiency. J Pediatr. 2007 Jun;150(6):649-53, 653.e1.

Cameron SH, Somaschini M., Carrera P., Hamvas A., Whitsett A., Wert SE., Deutsch G., Nogee LM. A common mutation in the surfactant protein C gene associated with lung disease. J of Pediatrics, 2005, 146:370-375

Malandrini A., Albani F., Palmeri S., Fattapposta F., Gambelli S., Berti G., Bracco A., Tammaro A. Calzavara S., Villanova M., Ferrari M., Rossi A., Carrera P.; Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL. Neurology, 2002; 59:617-620.

Kraus R.L., Sinnegger M.J., A. Koschak, Glossmann H., S. Stenirri, P. Carrera, J. Striessnig; Three new Familial Hemiplegic Migraine mutants affect P/Q-type CA2+ channel kinetics. J Biol Chem, 2000; 275:9239-9243.

Ceroni, T.E. Poloni, S. Tognetti, D. Fabozzi, C. Ugetti, F. Frediani, F. Simonetti, A. Malaspina, D. Alimonti,

  1. Ferrari, P. Carrera; Autosomal dominant migraine with prolonged aura in a family carrying a Notch3 gene mutation. Neurology, 2000; 54, 1869-187
  2. Carrera, M. Piatti, S. Stenirri, L.M.E. Grimaldi, E. Marchioni, M. Curcio, P.G. Righetti,
  3. Ferrari, C. Gelfi; Genetic heterogeneity in Italian families with Familial Hemiplegic Migraine. Neurology, 1999; 53: 26-32.
  4. Battistini, S. Stenirri, M. Piatti, C. Gelfi, P.G. Righetti, R. Rocchi, F. Giannini, N. Battistini, G.C. Guazzi,
  5. Ferrari, P. Carrera; A new CACNA1A gene mutation in acetazolamide-responsive Familial Hemiplegic Migraine and Ataxia. Neurology, 1999; 53: 38-43.

P.Carrera, A.M. Barbieri,

  1. Ferrari, P.G. Righetti, M. Perego, and C. Gelfi; Rapid detection of 21-hydroxylase deficiency mutations by allele-specific in vitro amplification and capillary zone electrophoresis. Clinical Chem, 1997; 43: 2121-2127 I.F.: 3,703