Mercedes Serrano Gimaré
Investigador
Research group
Professional network profiles
Last Publications
- Holubova V, Barone R, Grunewald S, Tesarová M, Hansíková H, Augustínová J, Sykut-Cegielska J, De Nictolis F, Diaz-Moreno U, Elangovan R, Epifani F, Gasperini S, Jansen M, Lefeber D, Maksym-Gasiorek D, Diego M, Ounap K, Pettinato F, Põder H, Rymen D, Vals MA, Serrano M, Witters P and Honzík T Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations. JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): .
- Granjo, Pedro, Pascoal, Carlota, Gallego, Diana, Francisco, Rita, Jaeken, Jaak, Moors, Tristen, Edmondson, Andrew C, Kantautas, Kristin A, Serrano M, Videira, Paula A and Dos Reis Ferreira, Vanessa Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community. ORPHANET JOURNAL OF RARE DISEASES . 19(1): 407-407.
- 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: 1-21.
Projects
- 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
- Project name:
- Early Treatment for children with mental health problems and Genetic Abnormalities through a Parenting intervention (The GAP): a pragmatic randomized controlled trial
- Leader
- Laia Villalta Maciá
- Funding entities:
- Fundació La Marató de TV3, Villalta Maciá, Laia
- Code
- 202236-10
- 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.