Tumors and vascular malformations

• Discovery of novel genetic drivers of vascular anomalies. Many vascular tumours and malformations still lack an identified genetic or molecular cause. We analyze patient-derived samples using state-of-the-art genomic and molecular technologies to identify new pathogenic variants and signalling pathways driving these disorders.
• Ascertain the natural history and impact on quality of life of patients with vascular anomalies. We study disease progression, clinical outcomes, and treatment responses across different types of vascular anomalies. This helps define patients' long-term clinical burden and impact on quality of life.
• Mechanisms of oncogenic signalling in vascular anomalies. We investigate how alterations in key developmental pathways drive the formation of vascular tumours, vascular malformations, and associated complex syndromes.
• Endothelial cell fate and disease initiation. We study how genetic alterations influence endothelial cell identity, behaviour, and differentiation, and how these processes determine whether vascular lesions develop as tumours or malformations.
• Angiogenesis in pediatric solid tumours. We explore the role of tumour-associated angiogenesis in paediatric cancers, aiming to understand how vascular growth contributes to tumour progression and how these mechanisms can be therapeutically targeted.

1. Discover new molecular causes of vascular anomalies. A significant proportion of vascular tumours and malformations still lack a defined genetic basis. We use advanced genomic and molecular technologies and analysis of patient-derived samples to identify novel mutations and signalling networks involved in disease initiation.
2. Characterize pathogenic signalling pathways and mechanisms of lesion formation. We aim to understand how aberrant activation of oncogenic pathways, particularly PI3K/PTEN, RAS/MAPK, and GNAQ signalling, alter endothelial cell behaviour, vascular growth, and tissue organization, leading to the development of proliferative tumours or structural malformations.
3. Model vascular anomalies. By developing experimental models that recapitulate patient mutations and phenotypes, we explore disease mechanisms and create platforms to evaluate potential therapeutic strategies.
4. Understand the role of angiogenesis in paediatric tumours. We study how tumour-associated vascularization contributes to the growth and progression of pediatric solid cancers and how these processes might be exploited therapeutically.

Our research group integrates basic and clinical scientists working together to understand the biological mechanisms underlying vascular anomalies and tumour angiogenesis. This composition enables us to approach these diseases from multiple perspectives, linking mechanistic research with clinical insight and patient needs. We combine expertise in cell and molecular biology, vascular biology, genomics, and computational biology to study the genetic and cellular drivers of vascular tumours and malformations. Our work uses state-of-the-art experimental and analytical approaches to investigate disease mechanisms across molecular, cellular, and organismal levels.

Our group allows us to directly connect laboratory discoveries with clinical observations and patient samples. This integrated bench-to-bedside structure facilitates the identification of disease mechanisms, biomarkers, and therapeutic vulnerabilities, aiming to improve diagnosis, treatment strategies, and outcomes for patients affected by vascular anomalies.