Laura Ventura
Contact info
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Address
Amsterdam University Medical Centers (UMC)
Location Vrije Universiteit Amsterdam
Department of Human Genetics
Amsterdam Reproduction & Development Research InstituteCenter 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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Phone
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
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