プロフィール詳細

プロジェクトを作成

★★★★★

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Dr. Catalina V.に依頼

Germany

Translational Rare Disease Scientist, PhD, Mitochondrial Biology, Disease Modeling, Antisense Therapeutics, Multi-Omics

プロフィール概要

PROFILE Translational scientist with more than 15 years of research experience across Germany, Finland, and Romania, specializing in mitochondrial biology, rare genetic disease, genomic medicine, and oligonucleotide therapeutics. Co-author on 13+ peer-reviewed publications, including the Journal of the American College of Cardiology, Communications Biology, Nature, and Nature Genetics. Awarded the Medix Prize for Clinical Research, over €100,000 in personal competitive research grants, and a contributing author on a successful US$100,000 therapeutic development award. In my postdoctoral position at the Technical University of Munich, I led a project on RNA therapeutics to correct splicing defects in mitochondrial disorders. This work integrated antisense oligonucleotide design and screening with transcriptomic and proteomic analyses in patient-derived fibroblasts, bridging disease gene discovery with translational applications. Through this project, I have gained extensive experience in experimental design, quantitative data analysis, and bioinformatics, together with a deep understanding of cellular responses to therapeutic interventions. Previously, during my PhD at the University of Helsinki, I co-led the Childhood Cardiomyopathy Genetics (KidCMP) study, integrating genomic and clinical data to identify novel disease-causing variants and improve the understanding of severe cardiomyopathies. Alongside genetic discovery, I established patient-derived cellular models (IPS-cardiomyocytes) and employed a broad range of molecular biology, biochemistry, advanced microscopy, and mitochondrial functional assays to investigate disease mechanisms. These experiences provided me with a solid foundation in mitochondrial biology and strengthened my interest in translating fundamental discoveries into clinical advances. I help biotech, pharma, and academic teams move from a genetic hypothesis to a validated mechanism and a credible therapeutic proof of concept: building patient-derived disease models, designing and screening antisense oligonucleotides, and turning processed RNA-seq and proteomics data into conclusions a team can act on. I work independently, communicate clearly with both bench scientists and decision-makers, and deliver on deadline. CONSULTING SERVICES Antisense Oligonucleotide and Splicing-Correction Programs ASO design and tiling for patient-specific splicing defects, cell-based screening cascades, quantitative rescue assays, dose-response and efficacy readouts, and recommendations for early therapeutic programs. Rare Disease Target Validation and Disease Modeling Patient-derived fibroblast and iPSC-cardiomyocyte models, genome-edited isogenic controls, mitochondrial function and bioenergetics panels, and end-to-end mechanism-of-disease workups from variant to phenotype. Multi-Omics Data Analysis and Interpretation Biological interpretation of processed transcriptomics and proteomics data in R: differential expression, pathway and enrichment analysis, variant interpretation in rare disease, experimental design and quality-control review. I work downstream of the sequencing pipeline (from processed count matrices, expression tables, and called variants) and deliver conclusions and figures rather than pipeline engineering. Scientific Writing, Grants, and Literature Intelligence Grant applications and resubmissions, manuscripts and responses to reviewers, systematic literature reviews, target and competitive-landscape dossiers, and recurring literature monitoring for R&D teams. Scientific Figure Design and Data Visualization Publication-ready figures, graphical abstracts, mechanism schematics, conference posters, and scientific slide decks built in R/ggplot2 and vector tools to journal specifications. Expert Consultation and Training Expert calls and second opinions on mitochondrial and rare disease biology, experimental design review, nucleic acid therapeutics for rare diseases, and workshops or seminars for research and translational teams. AREAS OF EXPERTISE Disease areas Mitochondrial and metabolic disease, rare and ultra-rare pediatric disorders, childhood cardiomyopathies, leukoencephalopathies, metabolic and neuromuscular disease. Therapeutic modality Antisense oligonucleotides (ASO), splice-switching oligonucleotides, splicing correction, RNA-targeted therapeutics, preclinical proof of concept, target identification and validation, biomarker development. Models and assays Patient-derived fibroblasts, iPSC and iPSC-cardiomyocytes, CRISPR/Cas9 genome editing, mitochondrial respiration and functional assays, SDS-PAGE and blue-native PAGE, Western blotting, fluorescence and confocal microscopy, flow cytometry, qPCR, TaqMan, MassARRAY genotyping. Omics analysis and interpretation Analysis and biological interpretation of processed RNA-seq and mass spectrometry proteomics data, differential expression, pathway and enrichment analyses, exome-based variant interpretation in rare disease, experimental design, quality-control review, biostatistics, R/Bioconductor, ggplot2, data visualization. Scope of data work I work downstream of the sequencing pipeline (from processed count matrices, expression tables, and called variants) on analysis, visualization, and interpretation. I do not take on raw-read processing, pipeline development or large-scale bioinformatics infrastructure. Communication and delivery Grant writing, manuscript writing, systematic literature review, scientific figure design, conference presentation, stakeholder management across clinical-academic-industry teams, student and junior scientist mentoring.

専門分野

• ☆ Molecular Biology
• ☆ Biomarkers
• ☆ Genetics
• ☆ Microarrays
• ☆ Omics
• ☆ Transcriptomics
• ☆ Proteomics
• ☆ Epigenetics
• ☆ Molecular Cloning
• ☆ Next Generation Sequencing (NGS)
• ☆ Cell Biology
• ☆ Cell-Based Assays
• ☆ Stem Cell Research
• ☆ Microscopy
• ☆ Light Microscopy
• ☆ Fluorescence Microscopy
• ☆ Data Analysis
• ☆ Data Processing
• ☆ Data Visualization
• ☆ Cell Culture
• ☆ Primary Cells
• ☆ Drug Discovery
• ☆ High Throughput Screening (HTS)
• ☆ Drug Target Identification
• ☆ Phenotypic Assays
• ☆ In vitro Diagnostics
• ☆ In vitro Diagnostic Validation
• ☆ In vitro Diagnostic Design
• ☆ Hypothesis
• ☆ Peer Review
• ☆ Research Methodology
• ☆ Survey Design & Methodology
• ☆ Instructional Webinars
• ☆ Skills Training
• ☆ Medical Writing
• ☆ Medical Content Writing
• ☆ SEO Medical Writing
• ☆ Healthcare Communications
• ☆ Patient Education Materials
• ☆ Research Summaries & Abstracts
• ☆ Cochrane Reviews
• ☆ Medical Copywriting
• ☆ Technical & Scientific Writing
• ☆ Journal Selection
• ☆ Manuscript & Journal Article Writing
• ☆ Instructional Materials
• ☆ Release Notes
• ☆ Experimental Protocols
• ☆ SOP & Protocol Writing
• ☆ White Papers
• ☆ Spec Sheets
• ☆ Case Studies
• ☆ Textbook Content Writing
• ☆ Science Communication
• ☆ Literature Review
• ☆ Traditional/Narrative Literature Review
• ☆ Systematic Literature Review
• ☆ Copywriting
• ☆ Emails & Newsletters
• ☆ Marketing Copy
• ☆ Social Media Copy
• ☆ Web Copy
• ☆ Blog Posts
• ☆ Scientific Proofreading & Editing
• ☆ Proofreading & Editing
• ☆ News Writing
• ☆ Course Content Writing
• ☆ Grant Writing

サービス

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

Writing Clinical Trial Documentation, Medical Writing, Technical Writing, Newswriting, Audio Transcription, General Proofreading & Editing

Research Fact Checking, Gap Analysis, Scientific and Technical Research, Systematic Literature Review, Secondary Data Collection

Consulting Scientific and Technical Consulting

Data & AI Data Visualization, Data Mining, Data Processing, Data Insights

Product Development Concept Development, Product Launch Support

職務経験

Independent Research Consultant

Independent

7月 2026 - 12月 2026

Postdoctoral Researcher

Technical University of Munich

6月 2021 - 9月 2025

Postdoctoral Researcher · PhD Researcher · Early-Stage Researcher

University of Helsinki

6月 2012 - 5月 2021

Early-Stage Researcher

University of Bonn

7月 2007 - 1月 2009

Research Assistant

Institute of Biological Research

10月 2005 - 6月 2007

学歴

PhD (Stem Cells and Metabolism Research Program)

University of Helsinki

5月 2014 - 12月 2020

MSc, Cell Biology and Molecular Biotechnologies

Babeș-Bolyai University

10月 2005 - 6月 2006

認定資格

• Data Science Program

  Harvard edX

  https://credentials.edx.org/credentials/25b39c35ff524523a8f6ab80a012319e/

  4月 2023 - 現在

• HMX Pro Pharmacology - Essentials

  Harvard medical school

  https://learn.hms.harvard.edu/verify?did=2df4e848

  11月 2021 - 現在

• HMX Pro Pharmacology - Drug Delivery

  Harvard medical school

  https://learn.hms.harvard.edu/verify?did=bdd0a5cf

  11月 2021 - 現在

出版物

JOURNAL ARTICLE

Aleo, S. J., Del Dotto, V., Romagnoli, M., Fiorini, C., Capirossi, G., Peron, C., Maresca, A., Caporali, L., Capristo, M., Tropeano, C. V., Zanna, C., Ross-Cisneros, F. N., Sadun, A. A., Pignataro, M. G., Giordano, C., Fasano, C., Cavaliere, A., Porcelli, A. M., Tioli, G., … Ghelli, A. M. (2024). Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy. Cell Reports Medicine, 5(2), 101383. https://doi.org/10.1016/j.xcrm.2023.101383 .

O., Poutanen, T., Martelius, L., Kumari, R., Hinterding, H., Brilhante, V., Ojanen, S., Lappalainen, P., Koskenvuo, J., Carroll, C. J., Fowler, V. M., Gregorio, C. C., & Suomalainen, A. (2024). Recessive TMOD1 mutation causes childhood cardiomyopathy. Communications Biology, 7(1), 7. https://doi.org/10.1038/s42003-023-05670-9 .

Vasilescu, C., Ojala, T. H., Brilhante, V., Ojanen, S., Hinterding, H. M., Palin, E., Alastalo, T.-P., Koskenvuo, J., Hiippala, A., Jokinen, E., Jahnukainen, T., Lohi, J., Pihkala, J., Tyni, T. A., Carroll, C. J., & Suomalainen, A. (2018). Genetic Basis of Severe Childhood-Onset Cardiomyopathies. Journal of the American College of Cardiology, 72(19), 2324–2338. https://doi.org/10.1016/j.jacc.2018.08.2171 .

Vasilescu, C., Isohanni, P., Palomäki, M., Pihko, H., Suomalainen, A., & Carroll, C. J. (2017). Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy. European Journal of Human Genetics, 25(3), 366–370. https://doi.org/10.1038/ejhg.2016.189 .

The rare Costello variant <i>HRAS</i> c.173C&gt;T (p.T58I) with severe neonatal hypertrophic cardiomyopathy Hiippala, A., Vasilescu, C., Tallila, J., Alastalo, T., Paetau, A., Tyni, T., Suomalainen, A., Euro, L., & Ojala, T. (2016). The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy. American Journal of Medical Genetics Part A, 170(6), 1433–1438. https://doi.org/10.1002/ajmg.a.37596 . American Journal of Medical Genetics Part A.

Vasilescu, C., Kivistö, S., Ojala, T., & Holmström, M. (2015). Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations. Journal of Cardiovascular Magnetic Resonance, 17(1), 89. https://doi.org/10.1186/s12968-015-0192-3 .

Le Hellard, S., Mühleisen, T. W., Djurovic, S., Fernø, J., Ouriaghi, Z., Mattheisen, M., Vasilescu, C., Raeder, M. B., Hansen, T., Strohmaier, J., Georgi, A., Brockschmidt, F. F., Melle, I., Nenadic, I., Sauer, H., Rietschel, M., Nöthen, M. M., Werge, T., Andreassen, O. A., … Steen, V. M. (2010). Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian samples. Molecular Psychiatry, 15(5), 463–472 .

Ingason, A., Giegling, I., Cichon, S., Hansen, T., Rasmussen, H. B., Nielsen, J., Jürgens, G., Muglia, P., Hartmann, A. M., Strengman, E., Vasilescu, C., Mühleisen, T. W., Djurovic, S., Melle, I., Lerer, B., Möller, H.-J., Francks, C., Pietiläinen, O. P. H., Lonnqvist, J., … Rujescu, D. (2010). A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia. Human Molecular Genetics, 19(7), 1379–1386. https://doi.org/10.1093/hmg/ddq009 Le Hellard, S., Mühleisen, T. W., Djurovic, S., Fernø, J., Ouriaghi, Z., Mattheisen, M., Vasilescu, C., Raeder, M. B., Hansen, T., Strohmaier, J., Georgi, A., Brockschmidt, F. F., Melle, I., Nenadic, I., Sauer, H., Rietschel, M., Nöthen, M. M., Werge, T., Andreassen, O. A., … Steen, V. M. (2010). Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian samples. Molecular Psychiatry, 15(5), 463–472. https://doi.org/10.1038/mp.2008.110 Pöyhönen, P., Hiippala, A., Ollila, L., Kaasalainen, T., Hänninen, H., Heliö, T., Tallila, J., Vasilescu, C., Kivistö, S., Ojala, T., & Holmström, M. (2015). Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations. Journal of Cardiovascular Magnetic Resonance, 17(1), 89. https://doi.org/10.1186/s12968-015-0192-3 Vasilescu, C., Colpan, M., Ojala, T. H., Manninen, T., Mutka, A., Ylänen, K., Rahkonen, O., Poutanen, T., Martelius, L., Kumari, R., Hinterding, H., Brilhante, V., Ojanen, S., Lappalainen, P., Koskenvuo, J., Carroll, C. J., Fowler, V. M., Gregorio, C. C., & Suomalainen, A. (2024). Recessive TMOD1 mutation causes childhood cardiomyopathy. Communications Biology, 7(1), 7. https://doi.org/10.1038/s42003-023-05670-9 Vasilescu, C., Isohanni, P., Palomäki, M., Pihko, H., Suomalainen, A., & Carroll, C. J. (2017). Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy. European Journal of Human Genetics, 25(3), 366–370. https://doi.org/10.1038/ejhg.2016.189 Vasilescu, C., Ojala, T. H., Brilhante, V., Ojanen, S., Hinterding, H. M., Palin, E., Alastalo, T.-P., Koskenvuo, J., Hiippala, A., Jokinen, E., Jahnukainen, T., Lohi, J., Pihkala, J., Tyni, T. A., Carroll, C. J., & Suomalainen, A. (2018). Genetic Basis of Severe Childhood-Onset Cardiomyopathies. Journal of the American College of Cardiology, 72(19), 2324–2338. https://doi.org/10.1016/j.jacc.2018.08.2171 .

Mattheisen, M., Herms, S., Hoffmann, P., Hillmer, A. M., Georgi, A., Herold, C., Schulze, T. G., Propping, P., Rietschel, M., McMahon, F. J., Nöthen, M. M., & Cichon, S. (2009). The DISC locus and schizophrenia: Evidence from an association study in a central European sample and from a meta-analysis across different European populations. Human Molecular Genetics, 18(14), 2719–2727. https://doi.org/10.1093/hmg/ddp204 .

Hamshere, M., Carroll, L., Georgieva, L., Dwyer, S., Holmans, P., Marchini, J. L., Spencer, C. C. A., Howie, B., Leung, H.-T., Giegling, I., Hartmann, A. M., Möller, H.-J., Morris, D. W., … Molecular Genetics of Schizophrenia Collaboration. (2009). Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2. Molecular Psychiatry, 14(1), 30–36. https://doi.org/10.1038/mp.2008.108 .

Norton, N., Williams, H., Peirce, T., Moskvina, V., Nikolov, I., Hamshere, M., Carroll, L., Georgieva, L., Dwyer, S., Holmans, P., Marchini, J. L., Spencer, C. C. A., Howie, B., Leung, H.-T., Hartmann, A. M., Möller, H.-J., … Owen, M. J. (2008). Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nature Genetics, 40(9), 1053–1055. https://doi.org/10.1038/ng.201 .

GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J. E., Hansen, T., Jakobsen, K. D., Muglia, P., Francks, C., Matthews, P. M., Gylfason, A., Halldorsson, B. V., Gudbjartsson, D., … Stefansson, K. (2008). Large recurrent microdeletions associated with schizophrenia. Nature, 455(7210), 232–236. https://doi.org/10.1038/nature07229 .

DISSERTATION THESIS

Genetics of rare childhood disorders with special focus on cardiomyopathies. Academic Dissertation Vasilescu C (2020). Genetics of rare childhood disorders with special focus on cardiomyopathies. Academic Dissertation, ISBN 978-951-51-6873-3 (print), ISBN 978-951-51-6874-0 (online), Hansaprint, Helsinki .