Experience

Nostos Genomics

• Germany
• Biotechnology
• 1 - 100 Employee

• • Jan 2023 - Present

• • Sep 2021 - Jan 2023



STALICLA

• Switzerland
• Biotechnology Research
• 1 - 100 Employee

• Human Geneticist Associate

  • Oct 2020 - Sep 2021

  - Data analysis of clinical observational studies, computational systems biology projects. - Design, curation and updating of proprietary genetic data knowledge databases - Redaction of Standard Operating Procedures, technical reports, publications - Data analysis of clinical observational studies, computational systems biology projects. - Design, curation and updating of proprietary genetic data knowledge databases - Redaction of Standard Operating Procedures, technical reports, publications



Bellvitge Biomedical Research Institute - IDIBELL

• Spain
• Research Services
• 300 - 400 Employee

• Postdoctoral Researcher (Juan de la Cierva / Sara Borrell fellowships)

  • Dec 2016 - Oct 2020

  - Identification of several novel genes associated to neurogenetic conditions. - Genetic diagnosis of neurological disease patients (leukodystrophies, ataxias, HSP, intellectual disability, others) using whole exome, genome and transcriptome sequencing data analysis - Description of hereditary disease forms associated to novel mechanisms of inheritance or phenotypes. - Redaction of genetic variant reports using ACMG/AMP criteria - Functional testing of variants of unknown significance (qRT-PCR, cDNA sequencing, WB, Immunofluorescence, lipidomics, metabolomics, mitochondrial function testing techniques, transfection-based assays, cell line and fibroblast cultures, others) - Development of novel diagnostic techniques (minigene splicing assays, repeat expansion analysis). - Redaction of several successful competitive call funding applications. - Supervision and teaching of Biochemistry/ Genetics master students. Show less



Inserm U1161 // APHP, Hôpital Lariboisière

• PhD Student / Ingénieur d'Étude

  • Mar 2012 - Sep 2016

  PhD thesis: "Cerebral Small Vessel Diseases (cSVD) of unknown etiology: a high throughput approach towards a better understanding of pathophysiological mechanisms" Qualification: Très honorable avec félicitations du jury (maximum score). - Identification of the previously unknown genetic defects underlying 2 novel cerebral Small Vessel Diseases (OMIM: # 618564 and # 616779) - Bioinformatics analysis of multicase families using SNP array and NGS (WES, panels) analysis. Linkage analysis, Copy Number Variant evaluation, bioinformatic/statistical analysis of WES cohorts - Functional testing of candidate variants (cDNA sequencing, qRT-PCR, WB, enzymatic assays, cloning+transfection assays, fibroblast cultures) - Redaction of high impact factor publications, protocols and scientific communications. Show less



Hospital de la Santa Creu i Sant Pau (Institut de Recerca)

• Genetic diagnosis project researcher

  • Mar 2009 - Mar 2012

  Genetic diagnosis of muscular dystrophies. - Development and performance of diagnostic tests (PCR, MLPA, sequencing, cDNA, sample extraction), variant analysis - Support to writing of genetic reports, protocols, articles and communications. - Curation of patient database for Duchenne Dystrophy patients. Genetic diagnosis of muscular dystrophies. - Development and performance of diagnostic tests (PCR, MLPA, sequencing, cDNA, sample extraction), variant analysis - Support to writing of genetic reports, protocols, articles and communications. - Curation of patient database for Duchenne Dystrophy patients.