Universitą degli studi di Pavia
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Della Mina's CV
Erika Della Mina, born 12-10-1984, Morbegno (SO) Italy.
University of Pavia
Department of Human and Hereditary Pathology
Tel.: +39 0382 987734
Faf.: +39 0382 525030
e-mail: erika.dellamina@unipv.it
EDUCATION/TRAINING
September 1998 – July 2003: High School Degree at Professional studies (Chemical and Biological Technician), IPSIA Romegialli, Morbegno (SO)
Final grade: 100/100
October 2003 – September 2006: First level University degree in Biotechnology (106/110)- Degree thesis: “Identification of cryptic chromosomal imbalances in Xq28 by array-CGH technique” at the Department of Human and Hereditary Pathology General Biology and Medical Genetics – Prof. O. Zuffardi - Pavia University -
October 2006 – 09 October 2008: Second level University degree in Medical and Pharmaceutical Biotechnology – Biomedical Research branch - (110 cum laude) - Degree thesis: “Identification of genomic cryptic imbalances by
array-CGH in patients with mental retardation and/or multiple congenital malformations” at the Department of Human and Hereditary Pathology General Biology and Medical Genetics – Prof. O. Zuffardi - Pavia University -
October 2008- October 2011: PhD student in Pathology and Medical Genetics at the Pavia University.
Supervisor: Prof. O. Zuffardi
Co-supervisor of student thesis of First Level degree in Biotechnology and Second level degree in Medical and Pharmaceutical Biotechnology
LABORATORY EXPERIENCE
2005-2008: Thesis internship at the Laboratory of Molecular Cytogenetic at Department of human and hereditary pathology, University of Pavia (Supervisor: Prof. O. Zuffardi)
October 2008 to present: PhD student at the Laboratory of Molecular Cytogenetic at Department of human and hereditary pathology, University of Pavia (Supervisor: Prof. O. Zuffardi)
Research topics:
Identification of molecular basis responsible of neurological disorders (developmental disabilities, autism spectrum disorders, epilepsy, Parkinson’s disease) and detection of genomic unbalanced associated with other disease, like Peutz-Jeghers syndrome and sex-reversal disorders by array-CGH and Next Generation Sequencing
2010 to present: collaboration with con IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino, at Center for Genetic Therapeutic Approaches (GenTher Center) to diagnose neurological and neuropsychiatric genetic disorders using Next Generation Sequencing.
TECHNICAL SKILLS
DNA extraction from several tissue, samples preparation for array-CGH analyses (digestion, hybridization, purification, hybridization on microarray); PCR to analyze microsatellites, mutations analyses; FISH analyses; samples preparation to Next Generation Sequencing (DNA fragmentation, libraries preparation, target enrichment, Cluster preparation e Sequencing by Illumina GAIIx).
Interpretation of Copy Number Variants identified by array-CGH using bioinformatics tools like UCSC, Database of Genomic Variants, Database di Troina, Decipher, Endeavour.
Filter out NGS’ dates by prediction tools (Mutation Taster, Polypen, ecc).
LANGUAGES
English good understanding
MEETING AND CONFERENCES
• 12 th SIGU Conference. Torino, 8-10 November 2009.
• Advanced Course of Cytogentic: from conventional to molecular karyotype. Geneva, 21-22 June 2010
• Genomic Disorders 2011 - The Genomics of Rare Diseases. Hinxton, Cambridge, UK. 23–26 March 2011.
• 8th European Cytogenetics Conference. Porto, Portugal. 02-05 July 2011.
• 14th SIGU Conference. Milan, 13-16 November 2011.
University of Pavia
Department of Human and Hereditary Pathology
Tel.: +39 0382 987734
Faf.: +39 0382 525030
e-mail: erika.dellamina@unipv.it
EDUCATION/TRAINING
September 1998 – July 2003: High School Degree at Professional studies (Chemical and Biological Technician), IPSIA Romegialli, Morbegno (SO)
Final grade: 100/100
October 2003 – September 2006: First level University degree in Biotechnology (106/110)- Degree thesis: “Identification of cryptic chromosomal imbalances in Xq28 by array-CGH technique” at the Department of Human and Hereditary Pathology General Biology and Medical Genetics – Prof. O. Zuffardi - Pavia University -
October 2006 – 09 October 2008: Second level University degree in Medical and Pharmaceutical Biotechnology – Biomedical Research branch - (110 cum laude) - Degree thesis: “Identification of genomic cryptic imbalances by
array-CGH in patients with mental retardation and/or multiple congenital malformations” at the Department of Human and Hereditary Pathology General Biology and Medical Genetics – Prof. O. Zuffardi - Pavia University -
October 2008- October 2011: PhD student in Pathology and Medical Genetics at the Pavia University.
Supervisor: Prof. O. Zuffardi
Co-supervisor of student thesis of First Level degree in Biotechnology and Second level degree in Medical and Pharmaceutical Biotechnology
LABORATORY EXPERIENCE
2005-2008: Thesis internship at the Laboratory of Molecular Cytogenetic at Department of human and hereditary pathology, University of Pavia (Supervisor: Prof. O. Zuffardi)
October 2008 to present: PhD student at the Laboratory of Molecular Cytogenetic at Department of human and hereditary pathology, University of Pavia (Supervisor: Prof. O. Zuffardi)
Research topics:
Identification of molecular basis responsible of neurological disorders (developmental disabilities, autism spectrum disorders, epilepsy, Parkinson’s disease) and detection of genomic unbalanced associated with other disease, like Peutz-Jeghers syndrome and sex-reversal disorders by array-CGH and Next Generation Sequencing
2010 to present: collaboration with con IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino, at Center for Genetic Therapeutic Approaches (GenTher Center) to diagnose neurological and neuropsychiatric genetic disorders using Next Generation Sequencing.
TECHNICAL SKILLS
DNA extraction from several tissue, samples preparation for array-CGH analyses (digestion, hybridization, purification, hybridization on microarray); PCR to analyze microsatellites, mutations analyses; FISH analyses; samples preparation to Next Generation Sequencing (DNA fragmentation, libraries preparation, target enrichment, Cluster preparation e Sequencing by Illumina GAIIx).
Interpretation of Copy Number Variants identified by array-CGH using bioinformatics tools like UCSC, Database of Genomic Variants, Database di Troina, Decipher, Endeavour.
Filter out NGS’ dates by prediction tools (Mutation Taster, Polypen, ecc).
LANGUAGES
English good understanding
MEETING AND CONFERENCES
• 12 th SIGU Conference. Torino, 8-10 November 2009.
• Advanced Course of Cytogentic: from conventional to molecular karyotype. Geneva, 21-22 June 2010
• Genomic Disorders 2011 - The Genomics of Rare Diseases. Hinxton, Cambridge, UK. 23–26 March 2011.
• 8th European Cytogenetics Conference. Porto, Portugal. 02-05 July 2011.
• 14th SIGU Conference. Milan, 13-16 November 2011.
