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PI3K/PTEN-related monogenic disease to understand cancer

Description du projet

Nouvelles cibles thérapeutiques pour les maladies rares et le cancer

La signalisation de la phosphoinositide 3-kinase (PI3K) est une voie essentielle de régulation de la croissance, du métabolisme et de la survie cellulaires. Le gène PTEN (Phosphatase and tensin homolog) sert de régulateur négatif de cette voie et joue un rôle suppresseur de tumeur. L’objectif du projet PIPgen, financé par l’UE, est d’exploiter les connaissances existantes sur l’implication de PI3K/PTEN dans le cancer afin de saisir l’implication de cette voie dans les maladies rares monogéniques, telles que les syndromes de surcroissance, les immunodéficiences primaires et les déficiences cognitives. De manière réciproque, les informations sur la PI3K dans les maladies rares seront appliquées au cancer. Les résultats générés sur le plan de la science fondamentale jetteront les bases de la conception de nouvelles thérapies pour les nombreuses maladies rares qui touchent des millions de citoyens partout en Europe.

Objectif

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.

Coordinateur

FUNDACIO INSTITUT DE RECERCA CONTRA LA LEUCEMIA JOSEP CARRERAS
Contribution nette de l'UE
€ 501 809,76
Adresse
CARRETERA DE CAN RUTI CAMI DE LES ESCOLES S/N
08916 Badalona
Espagne

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Région
Este Cataluña Barcelona
Type d’activité
Research Organisations
Liens
Coût total
€ 501 809,76

Participants (10)