Claudia Bertolacini, Phd Email & Phone Number

State Of São Paulo, Brazil

São Paulo

• Responsible for analysis and classification of copy number variations (CNVs), regarding ACMG criteria from CGH-array and exome tests for diagnosis of rare disease.
• Analysis of MLPA test in specific genes (ex: BRCA1, BRCA1, MLH1, TP53, MSH2, MSH6, etc) for mutation detection in patients with germline cancer and patients with rare disease (ex: Spinal muscular atrophy – AME).
• Analysis of single nucleotides variants (SNVs), from Next Generation Sequencing (NGS), and classification regarding of ACMG helping in diagnosis patients with rare diseases (Bochechinha Test – treatable diseases).
• Reading, interpretation and discussion of scientific articles to solve cases.
• Medical reports formulation and discussion of cases with geneticists Doctors.

São Paulo, SP, Brazil

• FLEURY MEDICAL DIAGNOSTIC LABORATORY – São Paulo/SP – BrazilLeader diagnostic company in Brazil.Laboratory Analyst – Genomic Laboratory – September/2019 to april/2021.
• Analysis, interpretation of data and medical reports of COVID19 Real-time PCR exams.
• Data interpretation from by Next Generation Sequencing (NGS): Analysis and genetics variants classification by softwares (Sophia and Emedgene) in hereditary cancer diagnoses.
• Medical reports formulation and discussion of cases with medical geneticists.
• Experience with internal and external quality control.
• Experience with genetic exams specific: NIPT by NGS (experience with library preparation, pool preparation and sequencing) and CGH-Array (400K and 180K).

Greater Nashville Area, TN

• One of the oldest and most prestigious academic medical centers in the United States with comprehensive centers of excellence that seek scientific breakthroughs and educational and clinical advances across the spectrum.
• Participation, execution, conduction and interpretation of data in the project research: Activation of retina cells (Muller Glia) by intraocular injection of extracellular vesicles (EVs) and small molecules.
• Responsible for genotyping and maintenance in transgenic mice colonies.
• Experiments execution in mice: intraocular injection, intraperitoneal injection, gavage, euthanasia and dissection of retina (adult mice and embryos).
• Cryossection of whole eye and retina and immunofluorescence (experience with monoclonal and polyclonal antibodies).
• Cell culture of primary and cell lineages.

Campinas-SP/Brazil

• Center for Research and Study on Molecular Mechanism of Disease, Pathogen Biology, Discovery and Development of Drugs and Cosmetics, Biocatalysis and Biological Engineering, Computational Biology.National bioscience.
• Participation, Implementation, Conduct, Interpretation and Dissemination of Results of the Scientific Project: New Drugs for Trypanosomatids (NMTrypl), a global project funded by the European Union. In collaboration.
• Responsible for the execution of High Throughput Screening of compounds in the parasite models.
• Laboratory Coordinator: Inventory Control, Purchase/Cote of Reagents, Laboratory Products and Equipment, Equipment Maintenance, Business Consulting, Financial Control of Concessions and Scientific Reports.
• Organization of Events: Escola São Paulo (CNPEM-Campinas / Brazil-July 2015) and NMTrypl International European Consortium (CNPEM-Campinas / Brazil-April 2015).
• Responsible for the culture of parasites such as Trypanosoma cruzi and Trypanosoma brucei.

Bauru Area, Brazil

• Specialty hospital in the rehabilitation of people with cleft lip and palate, congenital anomalies of the skull and face, syndromes associated with these malformations and hearing disorders.Scientific Researcher.
• Execution, conduction interpretation and dissemination of results of scientific projects related to Mutation and polymorphism Analysis in genes associated with Craniofacial Anomalies (Thematic Project)
• Collaboration and a 4-month experience at Dr. Murray Lab in University of Iowa applying methodologies of sequencing and Array-CGH to identify new polymorphisms and mutations related with Craniofacial Anomalies.
• Participation in clinical consultations of patients with the Clinical Geneticists team and blood sample collection.
• DNA extraction, quantification, electrophoresis, Sequencing by Sanger and maintenance of a sample bank and patient database.
• Execution of PCR, FISH, real-time PCR and Array-CGH techniques.

Bauru

• Laboratory Internship in Molecular Biology
• Responsible for collecting and e DNA extracting (Qiagen Kit) from blood of patients with cleft lip and palate and other associated syndromes.
• Quantification of DNA, conventional PCR and electrophoresis.
• Cleaning of glassware and equipment.
• Reagent preparation.

Campinas E Região, Brazil

• One of the best private universities in the country, PUC has excellence in education and research.
• Monitoring of practical and theoretical classes of Genetics with Professors
• Lectures for undergraduate students in Biology
• Application of tests and exams
• Examination bank for completion of the Pharmacy Course (FAM) - 2010

Iowa, United States

- Responsável pelo sequencimento (Sanger) de genes relacionados a Holoprosencefalia e outras Anomalias Craniofaciais;- Análise de dados e classificação de variantes providas de sequencimento.

Bauru

• Responsável pela coleta e extração de DNA (Kit Qiagen) de sangue de pacientes com fissuras labiopalatinas e outras síndromes associadas.
• Quantificação de DNA, PCR convencional e eletroforese.
• Limpeza de vidraria e equipamentos.
• Preparo de reagentes.

Biological Sciences (Genetics), Biological Sciences (Genetics)

Biological Sciences (Genetics), Biological Sciences (Genetics), 10

Activities and Societies: Clinical and Molecular ResearchPHD in Biological Sciences/Genetics

Biological Sciences, Biological Sciences, 10