Mercedes Serrano Gimaré
Investigador
Research group
Professional network profiles
Last Publications
- Jáñez Pedrayes A, De Craemer S, Idkowiak J, Verdegem D, Thiel C, Barone R, Serrano M, Honzík T, Morava E, Vermeersch P, Foulquier F, Morelle W, Swinnen JV, Rymen D, Cassiman D, Ghesquière B and Witters P Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation. CELLULAR AND MOLECULAR LIFE SCIENCES . 82(1): 257-257.
- Trujillano L, Valenzuela I, Costa-Roger M, Cuscó I, Fernandez-Alvarez P, Cueto-González A, Lasa-Aranzasti A, Masotto B, Abulí A, Codina-Solà M, Del Campo M, Ruiz Moreno JA, Pardo Domínguez C, Palma Milla C, Pérez de la Fuente R, Quesada-Espinosa JF, Núñez-Enamorado N, Gener B, Ballesta-Martínez MJ, Brea-Fernández AJ, Fernández-Prieto M, Trujillo-Quintero JP, Ruiz A, Santos-Simarro F, Rosello M, Orellana C, Martinez F, Martinez-Monseny T, Casas-Alba D, Serrano M, Palomares-Bralo M, Rikeros-Orozco E, Gómez-Cano MÁ, Tirado-Requero P, Pié Juste J, Ramos FJ, García-Arumí E and Tizzano E Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome CLINICAL GENETICS . 107(6): 646-662.
- 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 . : .
Projects
- Project name:
- TRI-VIAE: Exploración tridimensional de la epigenética en trastornos del neurodesarrollo: potencial diagnóstico, aplicabilidad en la clínica y descubrimiento de nuevas firmas epigenéticas.
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- Serrano Gimaré, Mercedes, Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD
- Code
- PI24/00482
- Starting - finishing date:
- 2025 - 2027
- Project name:
- Innovative Medicines Initiative 2 Joint EU: Autism Innovative Medicine Studies – 2 – Trials’ —‘AIMS-2-TRIALS’
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- European Commission, King's College London
- Code
- 777394
- Starting - finishing date:
- 2023 - 2026
- Project name:
- Contratos predoctorales de formación en investigación en salud_Beneficiari: Florencia Epifani
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- FI22/00218
- Starting - finishing date:
- 2023 - 2026
News
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A potential therapeutic target has been discovered for the rare metabolic disease PMM2-CDG
The collaboration of three research groups has made it possible to identify cellular and molecular pathways affected in patients with PMM2-CDG through the development of a transcriptomic data analysis technology using patient-derived fibroblasts.
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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.
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Professionals at Sant Joan de Déu make it easier for doctors around the world to diagnose a rare disease
They analysed the most remarkable traits of children suffering from PMM2-CDG and designed an app that uses a photograph of the patient's face to suggest a diagnosis.