Laura Ventura

PhD student

Contact info

  • Address

    Amsterdam University Medical Centers (UMC)
    Location Vrije Universiteit Amsterdam
    Department of Human Genetics
    Amsterdam Reproduction & Development Research Institute

    Center for Neurogenomics and Cognitive Research (CNCR)
    Department of Complex Trait Genetics
    W&N building, G3
    De Boelelaan 1085
    1081 HV Amsterdam
    The Netherlands

  • E-mail

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Short CV

2023 – present PhD candidate Amsterdam UMC / Vrije Universiteit Amsterdam
2022 – 2023 Technician Klinikum rechts der Isar, Technische Universität München, Germany
2019 – 2022 M.Sc. Medical Biotechnologies Università degli Studi di Modena e Reggio Emilia, Italy
2016 – 2019 B.Sc. Biotechnologies Università degli Studi di Modena e Reggio Emilia, Italy

Research

Osteogenesis Imperfecta (OI) is a common rare genetic disorder primarily attributed to pathogenic variants in collagen type I genes. OI is mainly characterized by bone fragility and very severe skeletal deformities. Furthermore, individuals with OI commonly exhibit associated features such as dentinogenesis imperfecta, hearing impairment, blue sclerae, joint laxity, hypermobility, and cardiovascular problems. Despite its prevalence and severe presentation, there is currently no effective therapy for OI.

Within our research team, led by Dr. D. Micha, we are actively working on the development of pharmacological and gene therapy approaches for OI. My PhD project is centred on the characterization of a novel in vivo model for OI, in which potential therapeutic compounds will be tested. Additionally, we are employing iPSC-derived mesenchymal stem cells from OI patients to design a gene therapy strategy that promotes bone tissue regeneration.

Highlighted publications