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PI3K/PTEN-related monogenic disease to understand cancer

Project description

New therapeutic targets for rare disorders and cancer

Phosphoinositide 3-kinase (PI3K) signalling is a key pathway that regulates cell growth, metabolism, and survival. Phosphatase and tensin homolog (PTEN) serves as a negative regulator of the pathway and has a tumour-suppressive role. The scope of the EU-funded PIPgen project is to exploit existing knowledge on the involvement of PI3K/PTEN in cancer to understand the implication of the pathway in monogenic rare diseases, such as overgrowth syndromes, primary immunodeficiencies and cognitive deficiencies. Conversely, information on PI3K in rare diseases will be fed back to cancer. The generated basic science results will lay the foundation for the design of novel therapies for the numerous rare diseases that affect millions of citizens across Europe.

Objective

There are more than 7000 rare diseases, affecting approximately 30 million European Union citizens. Eighty percent of rare diseases have monogenic origin and are often chronic or life-threatening. Several of these genetic mutations are also implicated in cancer, a disease of epidemic proportions (>14 million new cases/year worldwide). Genetic alterations in the PI3K/PTEN pathway are common events in both monogenic rare diseases and in cancer. Despite the molecular commonalities, these two pathologies have predominantly been investigated as independent entities. We aim to take advantage of the knowledge that has been generated regarding the role of PI3K in cancer to better understand the recently-discovered PI3K-related rare diseases (overgrowth syndromes, primary immunodeficiencies and cognitive deficiencies). Conversely, discoveries emanating from PI3K-related rare diseases will impact in the understanding of cancer. Ultimately, this cross-fertilization will impact on the clinical strategies to treat both rare diseases and cancer. Our network, under the acronym of PIPgen, aims to (1) produce the next generation of scientists that can navigate with ease between academic, industrial and clinical sectors and have the scientific and softs skills to convert research findings into commercialization and clinical applications, and (2) generate innovative knowledge that can be translated to the diagnosis and treatment of both rare diseases and cancer. This network provides a pan-European interdisciplinary and intersectorial training program of excellence bringing young researchers together with world leading academics, clinicians, entrepreneurs with experience from the pharma industry, corporate research as well as with dissemination and outreach activities. PIPgen has been conceived to make a real therapeutic impact both in rare diseases and cancer, based on basic bioscience.

Coordinator

FUNDACIO INSTITUT DE RECERCA CONTRA LA LEUCEMIA JOSEP CARRERAS
Net EU contribution
€ 501 809,76
Address
CARRETERA DE CAN RUTI CAMI DE LES ESCOLES S/N
08916 Badalona
Spain

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Region
Este Cataluña Barcelona
Activity type
Research Organisations
Links
Total cost
€ 501 809,76

Participants (10)