プロフィール詳細

プロジェクトを作成

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Dr. Natassia S.に依頼

United States

Ph.D in Human Genetics and Stem Cell Therapy.

プロフィール概要

• Search for biomarkers and causative genes in different Mendelian diseases. • Designed and analyzed GWAS, whole genome sequence, exome sequence of human and animal models to find causative genes and genetic modifiers. Ran variant calling and functional annotation for the prediction of causative mutations in collaboration with the BROAD Institute. (Vieira et al. Cell, 2015) • Designed, carried out and analyzed gene expression profiling using Affymetrix microarrays, RNA-seq and high-throughput qRT-PCR in tissues and primary cells culture obtained from patients and animal models. • Identified modifier genes and pathways disregulated in muscular dystrophy and looked for gene expression patterns that are now targets for drug screening. • Created zebrafish knockout & transgenic models using CRISPR/Cas9 technology based on the design of RNA guider sequence and subsequent embryo injections. Designed mice models using CRISPR/Cas9 and led the crossing with inducible lines (TET expression systems). • Led and coordinated all activities in Pfizer collaboration (grant award) to identify new targets for muscular dystrophy. Analyzed the targets, running tests in cells, zebrafish and mice models. • Ran functional studies to confirm causative and modifier genes including Western Blot and qRT-PCR to confirm gene expression, done by lentivirus (designed and cloned vectors). Gene expression manipulation in vivo using morpholinos, mRNA injection in zebrafish and AAV in mice (designed morpholinos and designed and cloned the vectors for virus). • Conducted in vitro and in vivo pre-clinical trial using mesenchymal stem cells in GMP conditions for muscular diseases. • Designed and performed new protocol for culture of mesenchymal stem cells culture in bioreactors and hyperflasks. • Established embryonic stem cells lines from different genetic disorders, after training at Doug Melton’s lab at Harvard. • Started and established different animal models colonies in Brazil, including the first dog colony and multiple mouse lines for muscular dystrophies • Introduced the protocol to create induced pluripotent stem cells lines, and established different lines.

専門分野

• ★ Genetics
• ★ Gene Therapy
• ☆ STEM
• ☆ Animal Biotechnology
• ☆ Animal Genetics
• ☆ Biomarkers
• ☆ Microarrays
• ☆ PCR
• ☆ Genome Sequencing
• ☆ Mutagenesis
• ☆ Exome Sequencing
• ☆ RNA Sequencing
• ☆ Stem Cell Research
• ☆ Blotting
• ☆ Clinical Trials
• ☆ Research Methodology

サービス

• Writing
• Consulting
• Product Development

職務経験

scientific advisor

StemCorp

7月 2011 - 現在

Postdoc

Harvard Medical School

7月 2011 - 現在

学歴

Ph.D (Genetics)

University of Sao Paulo

2月 2006 - 2月 2011

認定資格

• 認定資格の詳細は未入力です。