Liestal, Basel-Country, Switzerland
A passionate scientist with 15 years of experience in biomedical research and clinical trials, with expertise in genomics, molecular biology, and bioinformatics. Skilled in generating curated databases and managing high-quality research data. Experienced in interdisciplinary collaboration in clinical research with physicians, bioinformaticians, and scientists. Excellent problem-solving, scientific, and communication skills. I am a lifelong learner who enjoys challenges.
* Responsible for analyzing large-scale human genome sequencing data, with a focus on identifying genetic variants associated with specific clinical phenotypes; * Development and optimization of bioinformatics pipelines for variant analysis (SNVs, Indels, CNVs) using gold-standard tools (GATK, BWA, Samtools); * Integration of genomic databases (gnomAD, ClinVar, dbSNP) with electronic health records for genotype-phenotype correlation studies; * Application of data science techniques and statistical modeling in R/Python; * Multidisciplinary collaboration with medical and data engineering teams to support clinical decision-making based on genomic evidence.
• Managed and optimized Next-Generation Sequencing (NGS) workflows, including library preparation, sequencing, and data interpretation using bioinformatic tools. • Performed bioinformatics analyses to interpret complex biomedical data and developed genotype-phenotype correlation models, focusing on hereditary angioedema (HAE) and rare diseases. • Published research findings in peer-reviewed journals, conference presentations, and internal reports. • Collaborated with physicians, bioinformaticians, and scientists in a clinical research setting, contributing to case discussions for genetic study enrollment. • Conducted patient recruitment, clinical interviews, and educational sessions to simplify genetic concepts and enhance patient engagement, including designing Pedigree charts to illustrate inheritance patterns. • Generation of a highly curated database from Brazilian HAE patients’ data.
Project: Hereditary angioedema due to C1 inhibitor deficiency: Characterization of mutations in the SERPING1 gene, clinical correlations and ancestry investigation. • Identified and characterized pathogenic SERPING1 mutations in hereditary angioedema (HAE) patients and their families. • Established phenotype-genotype correlations to assess the impact of specific mutations on disease severity and clinical presentation. • Completed training on the Illumina and Ion Torrent sequencing platform operation and use. • Optimized qPCR protocols for genotyping assays, molecular validation of genetic findings, and genetic diagnostics for hereditary angioedema (HAE). • Mentored undergraduate, master’s, and PhD students in research design, data analysis, and ethics committee submissions. • Developed a curated database from HAE patients’ data.
Project: Identification of mutations in the gene encoding the C1 inhibitor (SERPING1) in patients with hereditary angioedema (HAE) • Developed and implemented genetic screening strategies for HAE, facilitating accurate molecular diagnosis. • Identified novel SERPING1 mutations and assessed their clinical relevance in affected families. • Established links between mutation profiles and disease manifestations, contributing to a deeper understanding of HAE pathophysiology. • Initiated the development of a curated database from HAE patients’ data.