Roser Urreizti Frexedas
Investigador
Research group
The researcher Roser Urreizti graduated in Biology in 2000 from the University of Barcelona (UB) and obtained a Doctorate degree in Genetics from the same university in 2007.
During the 2006-2007 academic year she worked as an associate professor at the Faculty of Medicine of the UB.
Since 2008, she is a CIBERER Post-Doc researcher mainly focused on the study of Rare Diseases, specially on rare neurodevelopmental syndromes.
Her main interest are the molecular and cellular consequences of MAGEL2 and TRAF7 syndromes and related conditions. She has strong background in functional studies. She is now working at the Metabolic Diseases Unit lead by Dr. Rafael Artuch, at Institut de Recerca Sant Joan de Déu · SJD Barcelona Children's Hospital and she is focused on WES analysis on ultrarare diseases and undiagnosed children.
Professional network profiles
Last Publications
- Urreizti R, Vissicchio J, Idries M, Cozar M, Rabionet-Janssen R, Donald T, Bhoj EJ, Nomakuchi TT, Shipley SC, Timms AE, Mirzaa GM, Serrano M and Sobering AK Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants AMERICAN JOURNAL OF MEDICAL GENETICS PART A . : .
- Pajusalu S, Vals AM, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Bérat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E and Ounap K Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG HUMAN MUTATION . 2024: 8813121-8813121.
- 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.
Projects
- Project name:
- Pipeline para el diagnóstico y seguimiento de pacientes con enfermedades mitocondriales basado en un análisis multiómico: Mitoverso
- Leader
- Rafael Artuch Iriberri
- Funding entities:
- Artuch Iriberri, Rafael, Instituto de Salud Carlos III (ISCIII)
- Code
- PI23/00006
- Starting - finishing date:
- 2024 - 2026
- Project name:
- SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2021 SGR 01610
- Starting - finishing date:
- 2022 - 2025
- Project name:
- Secuenciación de exoma para el diagnóstico de pacientes con enfermedades mitocondriales: investigación de aspectos fisiopatológicos y terapéuticos de las deficiencias de conezima Q10.
- Leader
- Rafael Artuch Iriberri
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI20/00340
- Starting - finishing date:
- 2021 - 2023
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.
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First clinical guideline on Schaaf-Yang syndrome for professionals and families
Improving knowledge of the Schaaf-Yang syndrome (SYS) -an ultrarare disease caused by mutations in the MAGEL2 gene- is the aim of the first clinical guideline aimed at healthcare professionals and families of children affected by this pathology.