Project: European network on Noonan syndrome and related disorders
| Acronym | NSEuroNet (Reference Number: EJPRD19-210) |
| Project Topic | RASopathies constitute a family of rare diseases affecting development. These disorders include Noonan syndrome and an increasing number of conditions sharing features including reduced growth, congenital heart defects, hypertrophic cardiomyopathy, cognitive deficits, facial dysmorphisms, skeletal and hematologic anomalies, and variable predisposition to certain malignancies. RASopathies share upregulation of RAS signaling via the MAPK and/or PI3K-AKT-mTOR pathways as pathogenetic mechanism. Past work of the partners of this consortium has significantly contributed to our understanding of the molecular causes underlying these diseases and to their clinical characterization. There are, however, fundamental questions about the mechanisms of disease that are still unanswered, and a significant number of patients remains molecularly unexplained. Goals of the proposed research, which is the natural follow-up of a previously funded E-Rare project, are to further explore the molecular bases of these disorders. Research will be directed to resolve the functional consequences of a large panel of uncharacterized RASopathy-causing mutations, generate in vitro and in vivo gene/mutation-specific models, characterize novel circuits modulating RAS signaling, explore the pathophysiology of key complications of these diseases, and further identify novel disease genes. Work will also be directed to populate a previously generated dedicated repository that will be used for clinically oriented studies to help clinicians towards a timely diagnosis and a more effective patient management. |
| Network | EJP RD |
| Call | 1st EJP RD Joint Transnational Call for Rare Diseases Research Project (JTC 2019) |
Project partner
| Number | Name | Role | Country |
|---|---|---|---|
| 1 | Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy | Coordinator | Italy |
| 2 | Otto-von-Guericke University Magdeburg | Partner | Germany |
| 3 | Heinrich-Heine University | Partner | Germany |
| 4 | Koninklijke Nederlandse Akademie van Wetenschappen | Partner | Netherlands |
| 5 | CHU Hôpital Robert Debré | Partner | France |
| 6 | INSERM | Partner | France |
| 7 | Instytut Matki i Dziecka | Partner | Poland |
| 8 | Icahn School of Medicine at Mount Sinai | Observer | United States |