プロフィール詳細

プロジェクトを作成

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Dr. Adriana D.に依頼

Brazil

Expert in molecular biology and medical genetics.

プロフィール概要

Extensive knowledge of molecular biology laboratory techniques applied to human and medical genetics. Solid experience in genomic sequencing and data analysis. 6+ years of academic and research background, developing project management experience, and troubleshooting skills. In my first research project, I developed genetic research, using biochemistry, microbiology, and molecular biology strategies in the study of Aspergillus fumigatus. With this project, we were able to partially characterization of rlmA gene, which has an important role in the formation and recomposition of the fungus cell wall. During my second project, we performed an investigation on chromosomal rearrangements involving the X chromosome and the impact of skewed X inactivation at patients’ phenotype. The development of this project recruited techniques as FISH, CGH-array, SNP-array, and RT-qPCR. The detailed identification of the involved regions and gene disruptions provided better genotype-phenotype and specific details for genetic counseling. In my Ph.D. project, we investigated the three-dimensional structure of chromatin and its effect on gene expression in patients with balanced X-autosomes translocations and premature ovarian insufficiency. The results provided a better understanding of the complex mechanism of gene regulation related to the chromatin organization in the interphase nucleus, as well as ovarian insufficiency. To address these questions, we use several NGS techniques, Sanger sequencing, and RT-qPCR.

専門分野

• ★ Genetics
• ★ Medicine
• ★ Research

サービス

• Writing
• Research
• Consulting
• Data & AI
• Product Development

Writing Technical Writing, Newswriting

Research Market Research, Feasibility Study, Fact Checking, Gray Literature Search, Systematic Literature Review, Secondary Data Collection

Consulting Scientific and Technical Consulting

Data & AI Statistical Analysis

Product Development Formulation

職務経験

Research and Development Bioinformatician

Genera Group

11月 2020 - 現在

PhD in molecular biology

Federal University of São Paulo

7月 2016 - 10月 2020

MSc in Human and Medical Genetics

Universidade de São Paulo

10月 2014 - 6月 2016

Lab technician III

Associação Fundo de Incentivo à Pesquisa

9月 2014 - 11月 2014

Lab Technician III

Associação Fundo de Incentivo à Pesquisa

2月 2013 - 8月 2014

学歴

PhD in Molecular Biology

Federal University of Sao Paulo

7月 2016 - 10月 2020

MSc in Human and Medical Genetics

Federal University of Sao Paulo

10月 2014 - 6月 2016

Bachelor in Biological Sciences

Federal University of Sao Carlos

2月 2008 - 6月 2012

認定資格

• 認定資格の詳細は未入力です。

出版物

JOURNAL ARTICLE

(2020). Genetics of premature ovarian insufficiency and the association with X-autosome translocations . Reproduction. 160. (4). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString R55--R64. Bioscientifica

(2020). Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation . Cytogenetic and Genome Research.

(2019). Search for appropriate reference genes for quantitative reverse transcription PCR studies in somite, prosencephalon and heart of early mouse embryo . Gene.

(2019). Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes . European Journal of Human Genetics.

(2018). Inactivation of AMMECR1 is associated with growth, bone, and heart alterations . Human Mutation.

(2016). Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review . American Journal of Medical Genetics Part A.

(2016). Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements . Human Genetics.

(2015). X-linked intellectual disability related genes disrupted by balanced X-autosome translocations . American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.