Universitą degli studi di Pavia
Contenuto della pagina
Plumitallo's cv
Curriculum
PERSONAL INFORMATION:
Name: Sara Plumitallo
Address: Via Enrico Lai 35, 09128 Cagliari (CA)
Date of birth: 02/04/1990
Phone: 3494525809
Laboratory phone: 0382987730
e-mail: sara.plumitallo01@universitadipavia.it
EDUCATION:
November 2013 until now: PhD Student in Genetics, Molecular and Cellular Biology.Department of Molecular Medicine, Laboratory of Medic Genetics (supervisor: Prof. Cesare Danesino).
October 2011- July 2013: Master of Science (MS), “Experimental and Applied Biology” with marks 110/110 cum laude. University of Pavia. Thesis title: “Hereditary Hemorrhagic Telangiectasia (HHT): mutation analysis, founder effect and genotype-phenotype correlation”. Supervisor: Prof. Cesare Danesino, Co-supervisor: Prof. Livia Bianchi.
September 2008- September 2011: Bechelor's degree, “Biological Science” with marks 110/110 cum laude.
Thesis title: “Molecular divergence in Polyommatus genus (Lepidoptera:Lycaenidae) based on mitochondrial DNA sequences analysis”. University of Cagliari. Supervisor: Prof. Annalisa Marchi.
September 2003- June 2008: High school certification, 100/100 cum laude. Liceo Scientifico Michelangelo, Cagliari.
WORK EXPERIENCE:
January 2012- July 2013: apprenticeship in Laboratory of Medic Genetics in Molecular Medicine Department (Supervisor: Prof. Cesare Danesino).
May 2008- September 2008: apprenticeship in Laboratory of Genetics (Supervisor: Prof. Annalisa Marchi) in Sperimental Biology Department.
Apprenticeship during the fourth high school year at Bioker, Polaris group, at Parco Tecnologico di Sardegna Ricerche (school-job project).
LANGUAGE SKILLS:
Italian: mother tongue
English: good
COMPUTER SKILLS:
Good knowledge of NCBI software.
Good knowledge of MS Office.
Research Project
Hereditary Hemorrhagic Telangiectasia: molecular study of a rare disease
Hereditary Hemorrhagic Telangiectasia is an autosomal dominant disease that affects approximately 1 in 5000 individuals. HHT is characterized by nasal and gastrointestinal bleeding due to the presence of abnormal blood vessels connections, named teleangiectases, principally localized in finger tips, lips, nose and gastrointestinal tract, and arteriovenous malformations (AVMs), principally localized in liver, lung and Central Nervous System.
Until now, four genes mutated in HHT have been identified: (1) ENG; (2) ACVRL1; (3) MADH4; (4) BMP9. All these genes encode proteins of TGF- β family, involved in the signaling pathway of angiogenic process.
The aim of my research project is to study phenotype-genothype correlations, starting from identification of mutations, responsible of pathology, in ENG and ACVRL1 (the two genes principally involved in HHT). In future, analysis could be extended to all four genes, using next generation sequencing techniques. In the first months of PhD, I will also study the distribution of functional polymorphism, g.-1607dupG, into MMP1 gene in a group of HHT patients. This gene encodes for matrix metalloproteinase 1, that degrades collagen 1. Functional polymorphism g.-1607dupG localized in the promoter region of MMP1, in which it creates a 5'-GGA-3' sequence site, that permits bond with transcription factor Ets. The effect is an increase of MMP1 expression level. Given that MMP1 is involved in angiogenic process, it's interesting to study the polymorphism (g.-1607dupG) distribution in HHT patients, to appreciate if there are some correlations between polymorphism distribution and phenotypic variability in HHT patients, especially about pulmonary AVMs.
From March 2014, in association with the research group, that studies the same disease, of the University of Bari “Aldo Moro”, it will be studied mutations distribution into ENG and ACVRL1 exons of whole Italian population, to better appreciate the number of unrelated families that have the same mutation causing disease.
In the laboratory in which I conduct the PhD there are far-back collaborations with other research groups, both Italian (Doc. C.Scotti) and of foreign country (Prof. Lux).
Publications
PERSONAL INFORMATION:
Name: Sara Plumitallo
Address: Via Enrico Lai 35, 09128 Cagliari (CA)
Date of birth: 02/04/1990
Phone: 3494525809
Laboratory phone: 0382987730
e-mail: sara.plumitallo01@universitadipavia.it
EDUCATION:
November 2013 until now: PhD Student in Genetics, Molecular and Cellular Biology.Department of Molecular Medicine, Laboratory of Medic Genetics (supervisor: Prof. Cesare Danesino).
October 2011- July 2013: Master of Science (MS), “Experimental and Applied Biology” with marks 110/110 cum laude. University of Pavia. Thesis title: “Hereditary Hemorrhagic Telangiectasia (HHT): mutation analysis, founder effect and genotype-phenotype correlation”. Supervisor: Prof. Cesare Danesino, Co-supervisor: Prof. Livia Bianchi.
September 2008- September 2011: Bechelor's degree, “Biological Science” with marks 110/110 cum laude.
Thesis title: “Molecular divergence in Polyommatus genus (Lepidoptera:Lycaenidae) based on mitochondrial DNA sequences analysis”. University of Cagliari. Supervisor: Prof. Annalisa Marchi.
September 2003- June 2008: High school certification, 100/100 cum laude. Liceo Scientifico Michelangelo, Cagliari.
WORK EXPERIENCE:
January 2012- July 2013: apprenticeship in Laboratory of Medic Genetics in Molecular Medicine Department (Supervisor: Prof. Cesare Danesino).
May 2008- September 2008: apprenticeship in Laboratory of Genetics (Supervisor: Prof. Annalisa Marchi) in Sperimental Biology Department.
Apprenticeship during the fourth high school year at Bioker, Polaris group, at Parco Tecnologico di Sardegna Ricerche (school-job project).
LANGUAGE SKILLS:
Italian: mother tongue
English: good
COMPUTER SKILLS:
Good knowledge of NCBI software.
Good knowledge of MS Office.
Research Project
Hereditary Hemorrhagic Telangiectasia: molecular study of a rare disease
Hereditary Hemorrhagic Telangiectasia is an autosomal dominant disease that affects approximately 1 in 5000 individuals. HHT is characterized by nasal and gastrointestinal bleeding due to the presence of abnormal blood vessels connections, named teleangiectases, principally localized in finger tips, lips, nose and gastrointestinal tract, and arteriovenous malformations (AVMs), principally localized in liver, lung and Central Nervous System.
Until now, four genes mutated in HHT have been identified: (1) ENG; (2) ACVRL1; (3) MADH4; (4) BMP9. All these genes encode proteins of TGF- β family, involved in the signaling pathway of angiogenic process.
The aim of my research project is to study phenotype-genothype correlations, starting from identification of mutations, responsible of pathology, in ENG and ACVRL1 (the two genes principally involved in HHT). In future, analysis could be extended to all four genes, using next generation sequencing techniques. In the first months of PhD, I will also study the distribution of functional polymorphism, g.-1607dupG, into MMP1 gene in a group of HHT patients. This gene encodes for matrix metalloproteinase 1, that degrades collagen 1. Functional polymorphism g.-1607dupG localized in the promoter region of MMP1, in which it creates a 5'-GGA-3' sequence site, that permits bond with transcription factor Ets. The effect is an increase of MMP1 expression level. Given that MMP1 is involved in angiogenic process, it's interesting to study the polymorphism (g.-1607dupG) distribution in HHT patients, to appreciate if there are some correlations between polymorphism distribution and phenotypic variability in HHT patients, especially about pulmonary AVMs.
From March 2014, in association with the research group, that studies the same disease, of the University of Bari “Aldo Moro”, it will be studied mutations distribution into ENG and ACVRL1 exons of whole Italian population, to better appreciate the number of unrelated families that have the same mutation causing disease.
In the laboratory in which I conduct the PhD there are far-back collaborations with other research groups, both Italian (Doc. C.Scotti) and of foreign country (Prof. Lux).
Publications
