Raquel Rabionet Janssen
Investigador
Research group
Raquel Rabionet graduated in Biology in 1996 from the University of Barcelona and obtained her degree in Biology from the University of Barcelona in 2002.
Between 2002 and 2005, she undertook a postdoctoral stay at Duke University in Durham, NC, where she studied the genetic bases of autism. From 2005 to 2017 she worked at the Center for Genomic Regulation in Barcelona, investigating the genetic bases of intellectual disability or the recovery of stroke, among other complex phenotypes.
Since 2015 she has been an Associate Professor at the University of Barcelona.
In 2017, she joined the research group as a researcher of the PERIS program.
She is currently leading the research line on the genetic bases of stroke recovery, where she studies whether low frequency genetic variants can modulate the inflammatory and neurogenesis response, affecting the functional state after stroke, The aim is to understand better these processes and to apply them to the development of therapies.
Professional network profiles
Last Publications
- Garcia-Giralt N, Ovejero D, Grinberg-Vaisman DR, Nogues X, Castañeda S, Balcells S and Rabionet-Janssen R Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures. HUMAN GENOMICS . 18(1): 87-87.
- Centeno-Pla M, Alcaide-Consuegra E, Gibson S, Prat-Planas A, Gutiérrez-Ávila JD, Grinberg-Vaisman DR, Urreizti R, Rabionet-Janssen R and Balcells S Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome. JOURNAL OF MEDICAL GENETICS . 61(8): 780-782.
- Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review PEDIATRIC NEUROLOGY . 155: 8-17.
Projects
- Project name:
- GENIUS: GENetic Influences on functional oUtcome after Stroke
- Leader
- Raquel Rabionet Janssen
- Funding entities:
- Fundació La Marató de TV3
- Code
- Reg. 70/307 Proj. 201726
- Starting - finishing date:
- 2018 - 2021
- Project name:
- Incorporació de R. Rabionet al projecte d'anàlisi d'exomes en síndrome d'Opitz i Fractura atípica. Beneficiari: Raquel Rabionet
- Leader
- Daniel Raúl Grinberg Vaisman
- Funding entities:
- Generalitat de Catalunya
- Code
- SLT002/16/00310
- Starting - finishing date:
- 2017 - 2019
News
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New advances in Schaaf-Yang syndrome research
A team led by researchers from the Institut de Recerca Sant Joan de Déu · IBUB discover that mutations in the MAGEL2 gene generate non-functional truncated proteins that tend to accumulate in the cell nucleus.