Experience

SOPHiA GENETICS

• Switzerland
• Biotechnology Research
• 400 - 500 Employee

• Subject Matter Expert

  • Jun 2023 - Present



Blueprint Genetics

• Finland
• Hospitals and Health Care
• 100 - 200 Employee

• Geneticist

  • Aug 2019 - Jun 2023



NIMGenetics

• Spain
• Biotechnology Research
• 1 - 100 Employee

• Clinical Analyst at Medical Department

  • May 2016 - Jul 2019

  Clinical Molecular Geneticist at Medical Department. NGS Clinical analyst. Clinical interpretation and reporting in genetic testing. Development and validation of products and software tools. Pre-test and post-test clinical assessment Clinical Molecular Geneticist at Medical Department. NGS Clinical analyst. Clinical interpretation and reporting in genetic testing. Development and validation of products and software tools. Pre-test and post-test clinical assessment



Genetics & Genomics Dept. Hospital Fundación Jiménez Díaz (IIS-FJD-UAM)

• Madrid, Spain

• Postdoctoral Researcher

  • Jan 2013 - May 2016

  Inherited human diseases: clinical and molecular characterization. Genetic diagnostics. Next-Generation Sequencing data analysis. CRISPR Genome Editing‎. Ophthalmics. Phenotype-genotype correlations. Design, development and evaluation of diagnostics pipelines. Patients recruitment and management of informed consent for research ethics committees. Bioethics. Code of Pratice. Observational studies. Inherited human diseases: clinical and molecular characterization. Genetic diagnostics. Next-Generation Sequencing data analysis. CRISPR Genome Editing‎. Ophthalmics. Phenotype-genotype correlations. Design, development and evaluation of diagnostics pipelines. Patients recruitment and management of informed consent for research ethics committees. Bioethics. Code of Pratice. Observational studies.



INSERM

• France
• Research Services
• 700 & Above Employee

• Postdoctoral Research Exchange

  • Jun 2015 - Jul 2015

  Disease modeling with iPSC (induced pluripotent stem cells). Collaboration in the Research Project for testing the efficiency of readthrough drugs on a human cellular model of the choroideremia retina based on iPSc-derived retinal pigmented epithelium. Disease modeling with iPSC (induced pluripotent stem cells). Collaboration in the Research Project for testing the efficiency of readthrough drugs on a human cellular model of the choroideremia retina based on iPSc-derived retinal pigmented epithelium.



University of Lausanne - UNIL

• Switzerland
• Research Services
• 700 & Above Employee

• Postdoctoral Research Exchange

  • Jan 2015 - Mar 2015

  Whole genome sequencing in Retinitis Pigmentosa: searching for pathogenic DNA variants in 11 Spanish families. Bioinformatics analysis of whole genome sequencing (WGS) data Whole genome sequencing in Retinitis Pigmentosa: searching for pathogenic DNA variants in 11 Spanish families. Bioinformatics analysis of whole genome sequencing (WGS) data



Centro de Biología Molecular Severo Ochoa, Centro de Diagnóstico de Enfermedades Moleculares

• Ph.D. in Molecular Biology, Biochemistry, Biomedicine and Biotechnology

  • Jul 2008 - Dec 2012

  -Functional and molecular characterization of nonsense and splicing mutations in inherited metabolic diseases. Generation of minigenes to confirm exon skipping mutations. Development of mutation-specific therapy. Enzymatic assays. Applications and delivery options for antisense therapy in cellular models of disease. Use of read-through drugs as a therapeutical approach in propionic acidemia. Rare diseases -Analysis of large rearrangements causing propionic acidemia. MLPA analysis -Functional and molecular characterization of nonsense and splicing mutations in inherited metabolic diseases. Generation of minigenes to confirm exon skipping mutations. Development of mutation-specific therapy. Enzymatic assays. Applications and delivery options for antisense therapy in cellular models of disease. Use of read-through drugs as a therapeutical approach in propionic acidemia. Rare diseases -Analysis of large rearrangements causing propionic acidemia. MLPA analysis



CIBER Enfermedades Raras

• Spain
• Research Services
• 1 - 100 Employee

• CIBERER Fellowship

  • Sep 2007 - Jul 2008

  Functional and molecular characterization of mutations in inherited metabolic diseases Functional and molecular characterization of mutations in inherited metabolic diseases