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Alberto Plaja Rustein

Institutions of which they are part

Main researcher
Genetics Medicine
Vall Hebron Institut de Recerca

Alberto Plaja Rustein

Institutions of which they are part

Main researcher
Genetics Medicine
Vall Hebron Institut de Recerca

Projects

Pilot project for the implementation of a screening tool to improve the prevention, diagnosis, and treatment of patients with a neurodevelopmental psychiatric disorder: Using the 22q11.2 deletion syndrome (22q11.2DS) as a model

IP: Alberto Plaja Rustein
Collaborators: Anna Maria Cueto Gonzalez
Funding agency: Instituto de Salud Carlos III
Funding:
Reference: PMP22/00088
Duration: 01/01/2023 - 31/12/2025

Detection of structural genetic factors modifying the phenotype in a population with congenital defects.

IP: Alberto Plaja Rustein
Collaborators: Anna Maria Cueto Gonzalez
Funding agency: Instituto de Salud Carlos III
Funding: 123420
Reference: PI20/01767
Duration: 01/01/2021 - 30/06/2025

Investigación del papel de las reorganizaciones genómicas en los Defectos Congénitos del Corazón (DGC) y desarrollo de nuevas herramientas de diagnóstico genético prenatal y postnatal

IP: Alberto Plaja Rustein
Collaborators: Maria Ángeles Sánchez Durán, Teresa Vendrell Bayona, Gemma Giralt García, Asunción Fernández Rodríguez
Funding agency: Instituto de Salud Carlos III
Funding: 109505
Reference: PI09/00632
Duration: 01/01/2010 - 31/12/2013

Oncologia Molecular i Envelliment

IP: Simon Schwartz Navarro
Collaborators: Alberto Plaja Rustein, Teresa Vendrell Bayona, Manuel Armengol Carrasco, Eloy Espín Basany
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 36600
Reference: 2005SGR 00076
Duration: 01/01/2006 - 31/12/2008

Related news

The results show that, in some patients with mutations in the X chromosome, the healthy gene is inactivated and the mutated gene manifests itself, which favors the onset of the disease.

On January 24, a session was held to explain what these three-dimensional models are and what advantages they have, as well as to review some of their applications in research.

The research has studied the structure and function of proteins related to this degenerative disease and their interaction with SMN2 messenger RNA (mRNA), which is key to the evolution of patients.

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