Universitą degli studi di Pavia
Contenuto della pagina
Nacci's curriculum
Curriculum
PERSONAL INFORMATIONS:
First name and Surname: Lucia Nacci
Address: Corso Garibaldi 20 m, 27100 Pavia
Date and place of birth: 03/08/1987, Francavilla Fontana (BR) Italy
Phone: 3203591929
e-mail: lucia.nacci01@ateneopv.it
nacci.lucia@gmail.com
EDUCATION AND TRAINING:
February 2014- July 2014: abroad period in MRC Laboratory of Molecular Biology under the supervision of Professor Alan J. Warren at University of Cambridge.
11/2012 - Present
PhD in Genetics, Molecular and Cellular Biology, University of Pavia, Italy.
Scientific supervisor: Professor Cesare Danesino- Laboratory of medical genetics, Department of Molecular Medicine.
October 2009 - April 2012: Master of Science (MS), Human biology, 110/110 with honors, University of Lecce, Italy. Title of the thesis: “Effects of heat and heavy metals shock on the regulation of repetitive sequences in the germline of Drosophila melanogaster”. Supervisor Prof. Maria Pia Bozzetti.
October 2006 - October 2009: Bechelor's degree, Biological Science, 100/110 with honors, University of Lecce, Italy. Title of the thesis: “Preparation of vacuoles very purified and intact by Saccaromyces cerevisiae”. Supervisor Prof. Loredana Capobianco.
September 2001 - July 2006: High school certification, 100/100. Liceo “Francesco Ribezzo” (Liceo Scientifico), Francavilla Fonatana (Italy).
PERSONAL SKILLS AND COMPETENCES:
Technical skills: Mutational analysis, DNA extraction, RNA extraction, PCR, REAL-TIME PCR, sequencing, fluorescence microscope, electrophoresis, quantification of proteins with BCA method; Western blot, ELISA and surcrose density analysis of ribosomes.Cell coltures.
Computer skills: use of Microsoft programs like Word, Power Point, Excel.
Languages: Mother tongue: Italian
English
Congress attendance
4th National Congress on Shwachman-Diamond Syndrome: “ 10 years after the discovery of gene” Cosmopolitan Hotel, Italia. Bologna, 17-18 May 2013.
Nacci, L., Minelli, A., Sainati, L., Longoni, D., Poli, F., Cipolli, M., Perobelli, S., Nicolis, E., Cannioto, Z., Valli, R., Pasquali, F., Morini, J., Danesino, C. Acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 is not a common mechanism in patients with Shwachman-Diamond syndrome. “Il direttivo AISS incontra I ricercatori” Bologna, Millenn Hotel, 23 Novembre 2013. (ORAL COMUNICATION)
Research project
Shwachman-Diamond syndrome (SDS): molecular study of the disease
The research activity concern the study of a rare genetic syndrome, the Shwachman-Diamond syndrome (SDS), with autosomal recessive disorder inheritance caused by mutations in the SBDS gene located on chromosome 7 (7q11). Patients present an exocrine pancreatic insufficiency, skeletal defects and haematological abnormalities including neutropenia and bone marrow failure associated with the development of MDS and / or AML in 1/3 of the cases.
Two recurrent mutations are found in exon 2 (c.258 + 2T> C and c.183_184TA> CT) in the 90% of patients. In the bone marrow of patients may be present two typical chromosomal alterations, the deletion of the long arm of the chromosome 20 [del(20)(q11)] and more frequently the isochromosome of the long arm of the chromosome 7 [i(7)(q10)].
Previous studies of the group of professor C. Danesino, have shown:
- the i(7)(q10) was always originated by the parental chromosome 7 carrying c.258 + 2T> C (eight cases);
- consequently the bone marrow cells with the i(7)(q10) contained two copies of this allele and in according with data of literature seems to allow a minimum production of the protein SBDS.
Recently Parikh1 demostrated an uniparental disomy of the long arm of chromosome 7 in the bone marrow of a case of SDS patient in absence of chromosomal abnormalities.
These data suggest to analyze the DNA extracted by the bone marrow of some patients who didn’t show i(7)(q10) at the time of collection, to detect uniparental disomy of 7q. The aim of this study is to check if in the absence of the i(7)(q10) may occur other phenomena which lead to a group of cells to have a double dose of the mutation c.258 + 2T> C.
1. Parikh, S., Perdigones, N., Paessler, M., Greenbaum, B., Tooke, L.S., Biegel, J.A., Mason, P.J. and Bessler, M. (2012) Blackwell Publishing Ltd, British Journal of Haematology
Publications
Abstracts
Nacci, L., Minelli, A., Sainati, L., Longoni, D., Poli, F., Cipolli, M., Perobelli, S., Nicolis, E., Cannioto, Z., Valli, R., Pasquali, F., Morini, J., Danesino, C. Acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 is not a common mechanism in patients with Shwachman-Diamond Syndrome. SIGU2013. Rome, 25-28 September 2013.
Nacci, L., Minelli, A., Sainati, L., Longoni, D., Poli, F., Cipolli, M., Perobelli, S., Nicolis, E., Cannioto, Z., Valli, R., Pasquali, F., Morini, J., Danesino, C. Acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 is not a common mechanism in patients with Shwachman-Diamond syndrome. 7th International Congress on Shwachman-Diamond Syndrome. Toronto, Marriott Bloor Yorkville Hotel, 4-6 November 2013.
Morini,J., Babini, G., Mariotti, L.G., Baiocco, G., Nacci,L., Maccario, C., Liotta, M., Tabarelli, P., Minelli, A., Savio, M., Ottolenghi, A., Danesino, C. Effect of ionizing radiation exposure on proliferation and cell cycle in cells derived from Shwachman-Diamond syndrome affected patients. (POSTER)
Papers
Nacci, L., Minelli, A., Sainati, L., Longoni, D., Poli, F., Cipolli, M., Perobelli, S., Nicolis, E., Cannioto, Z., Valli, R., Pasquali, F., Morini, J., Danesino, C. Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. Br J Haematol. 2014 May;165(4):573-5. doi: 10.1111/bjh.12767. Epub 2014 Feb 1.
Morini J, Babini G, Mariotti L, Baiocco G, Nacci L, Maccario C, Rößler U, Minelli A1, Savio M, Gomolka M, Kulka U, Ottolenghi A, Danesino C. “Radiosensitivity in lymphoblastoid cell lines derived from shwachman-diamond syndrome patients”. Radiation Protection Dosimetry. (submitted).
PERSONAL INFORMATIONS:
First name and Surname: Lucia Nacci
Address: Corso Garibaldi 20 m, 27100 Pavia
Date and place of birth: 03/08/1987, Francavilla Fontana (BR) Italy
Phone: 3203591929
e-mail: lucia.nacci01@ateneopv.it
nacci.lucia@gmail.com
EDUCATION AND TRAINING:
February 2014- July 2014: abroad period in MRC Laboratory of Molecular Biology under the supervision of Professor Alan J. Warren at University of Cambridge.
11/2012 - Present
PhD in Genetics, Molecular and Cellular Biology, University of Pavia, Italy.
Scientific supervisor: Professor Cesare Danesino- Laboratory of medical genetics, Department of Molecular Medicine.
October 2009 - April 2012: Master of Science (MS), Human biology, 110/110 with honors, University of Lecce, Italy. Title of the thesis: “Effects of heat and heavy metals shock on the regulation of repetitive sequences in the germline of Drosophila melanogaster”. Supervisor Prof. Maria Pia Bozzetti.
October 2006 - October 2009: Bechelor's degree, Biological Science, 100/110 with honors, University of Lecce, Italy. Title of the thesis: “Preparation of vacuoles very purified and intact by Saccaromyces cerevisiae”. Supervisor Prof. Loredana Capobianco.
September 2001 - July 2006: High school certification, 100/100. Liceo “Francesco Ribezzo” (Liceo Scientifico), Francavilla Fonatana (Italy).
PERSONAL SKILLS AND COMPETENCES:
Technical skills: Mutational analysis, DNA extraction, RNA extraction, PCR, REAL-TIME PCR, sequencing, fluorescence microscope, electrophoresis, quantification of proteins with BCA method; Western blot, ELISA and surcrose density analysis of ribosomes.Cell coltures.
Computer skills: use of Microsoft programs like Word, Power Point, Excel.
Languages: Mother tongue: Italian
English
Congress attendance
4th National Congress on Shwachman-Diamond Syndrome: “ 10 years after the discovery of gene” Cosmopolitan Hotel, Italia. Bologna, 17-18 May 2013.
Nacci, L., Minelli, A., Sainati, L., Longoni, D., Poli, F., Cipolli, M., Perobelli, S., Nicolis, E., Cannioto, Z., Valli, R., Pasquali, F., Morini, J., Danesino, C. Acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 is not a common mechanism in patients with Shwachman-Diamond syndrome. “Il direttivo AISS incontra I ricercatori” Bologna, Millenn Hotel, 23 Novembre 2013. (ORAL COMUNICATION)
Research project
Shwachman-Diamond syndrome (SDS): molecular study of the disease
The research activity concern the study of a rare genetic syndrome, the Shwachman-Diamond syndrome (SDS), with autosomal recessive disorder inheritance caused by mutations in the SBDS gene located on chromosome 7 (7q11). Patients present an exocrine pancreatic insufficiency, skeletal defects and haematological abnormalities including neutropenia and bone marrow failure associated with the development of MDS and / or AML in 1/3 of the cases.
Two recurrent mutations are found in exon 2 (c.258 + 2T> C and c.183_184TA> CT) in the 90% of patients. In the bone marrow of patients may be present two typical chromosomal alterations, the deletion of the long arm of the chromosome 20 [del(20)(q11)] and more frequently the isochromosome of the long arm of the chromosome 7 [i(7)(q10)].
Previous studies of the group of professor C. Danesino, have shown:
- the i(7)(q10) was always originated by the parental chromosome 7 carrying c.258 + 2T> C (eight cases);
- consequently the bone marrow cells with the i(7)(q10) contained two copies of this allele and in according with data of literature seems to allow a minimum production of the protein SBDS.
Recently Parikh1 demostrated an uniparental disomy of the long arm of chromosome 7 in the bone marrow of a case of SDS patient in absence of chromosomal abnormalities.
These data suggest to analyze the DNA extracted by the bone marrow of some patients who didn’t show i(7)(q10) at the time of collection, to detect uniparental disomy of 7q. The aim of this study is to check if in the absence of the i(7)(q10) may occur other phenomena which lead to a group of cells to have a double dose of the mutation c.258 + 2T> C.
1. Parikh, S., Perdigones, N., Paessler, M., Greenbaum, B., Tooke, L.S., Biegel, J.A., Mason, P.J. and Bessler, M. (2012) Blackwell Publishing Ltd, British Journal of Haematology
Publications
Abstracts
Nacci, L., Minelli, A., Sainati, L., Longoni, D., Poli, F., Cipolli, M., Perobelli, S., Nicolis, E., Cannioto, Z., Valli, R., Pasquali, F., Morini, J., Danesino, C. Acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 is not a common mechanism in patients with Shwachman-Diamond Syndrome. SIGU2013. Rome, 25-28 September 2013.
Nacci, L., Minelli, A., Sainati, L., Longoni, D., Poli, F., Cipolli, M., Perobelli, S., Nicolis, E., Cannioto, Z., Valli, R., Pasquali, F., Morini, J., Danesino, C. Acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 is not a common mechanism in patients with Shwachman-Diamond syndrome. 7th International Congress on Shwachman-Diamond Syndrome. Toronto, Marriott Bloor Yorkville Hotel, 4-6 November 2013.
Morini,J., Babini, G., Mariotti, L.G., Baiocco, G., Nacci,L., Maccario, C., Liotta, M., Tabarelli, P., Minelli, A., Savio, M., Ottolenghi, A., Danesino, C. Effect of ionizing radiation exposure on proliferation and cell cycle in cells derived from Shwachman-Diamond syndrome affected patients. (POSTER)
Papers
Nacci, L., Minelli, A., Sainati, L., Longoni, D., Poli, F., Cipolli, M., Perobelli, S., Nicolis, E., Cannioto, Z., Valli, R., Pasquali, F., Morini, J., Danesino, C. Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. Br J Haematol. 2014 May;165(4):573-5. doi: 10.1111/bjh.12767. Epub 2014 Feb 1.
Morini J, Babini G, Mariotti L, Baiocco G, Nacci L, Maccario C, Rößler U, Minelli A1, Savio M, Gomolka M, Kulka U, Ottolenghi A, Danesino C. “Radiosensitivity in lymphoblastoid cell lines derived from shwachman-diamond syndrome patients”. Radiation Protection Dosimetry. (submitted).
