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Biography

Gerard Muñoz-Pujol recently earned his PhD in Biomedicine with the distinction of cum laude (2023). His academic journey includes a Bachelor’s degree in Biochemistry and Molecular Biology (2016), followed by two Master’s degrees in Neuroscience (2017) and Bioinformatics and Biostatistics (2023). He specializes in integrative omics approaches and functional studies to validate genetic mechanisms and therapeutic targets, particularly in inherited genetic disorders.

He has contributed to one international project (the CHARLIE Consortium, aimed at developing therapies and biomarkers for rare lysine metabolism disorders) and eight national projects. He is the author of nine indexed publications, being first or co-first author on four of them (PMIDs 36293220, 36450274, 37569695, 37718653). His work has been presented at six national and four international conferences, in oral presentations and posters. Notably, he received the Best Oral Communication award at the Spanish XV National Congress of Inborn Errors of Metabolism (Madrid, 2023) for his work in CRISPR/Cas9-based functional genomics tool to study variants of uncertain significance (PMID 37718653). During his PhD and before COVID-19 pandemic, Gerard received training in the labs of Dr. Holger Prokisch and Dr. Julien Gagneur at the Institute of Human Genetics in Munich (Germany, 2019) on the application of the DROP pipeline for RNA-seq analysis. This collaboration led to his co-authorship on Yépez VA et al. (2022, PMID 35379322).

Currently, as a Junior Postdoctoral Researcher at IR Sant Pau under Prof. Dr. Jordi Surrallés, Gerard applies his expertise in omics and gene editing to validate variants of uncertain significance in cancer predisposition DNA repair syndromes.

Gerard is affiliated with several professional societies, including the Center for Biomedical Network Research on Rare Diseases (CIBER-ER), the European Hematology Association (EHA), the Spanish Human Genetics Association (AEGH), and the Catalan Association of Biologists (CBC). He co-organized the SSIEM Course: Next-Generation Sequencing and Clinical Genomics (Barcelona, 2019). He has also been an invited speaker at several workshops and courses, including: "Functional studies of variants of uncertain significance in cancer predisposition DNA repair syndromes" at the Spanish Annual Meeting on Genomic Instability (CABIMER, 2024), "Generation of cellular models for inherited genetic disorders using CRISPR/Cas9" at Hospital Ramón y Cajal (IRYCIS Courses, Madrid, 2023 and 2024), and "Transcriptome analysis for diagnosing inherited genetic disorders" at CNAG (Workshop, Barcelona, 2022).

Activities

Employment (3)

Institut de Recerca Sant Pau: Barcelona, ES

2024-01-01 to present | Postdoctoral Researcher (R2A) (Genomic Instability DNA Repair Syndromes Group. Joint Research Unit in Genomic Medicine UAB-IR Sant Pau.)
Employment
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Gerard Muñoz-Pujol

Consorci Institut D'Investigacions Biomediques August Pi I Sunyer: Barcelona, ES

2018-09 to 2023-12-31 | PhD Researcher (Inborn Errors of Metabolism Section, Department of Biochemistry and Molecular Genetics)
Employment
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Gerard Muñoz-Pujol

Sant Joan de Déu-Barcelona Children’s Hospital: Barcelona, ES

2018-05-01 to 2018-08-31 | Research Assistant (Neuromuscular Unit)
Employment
Source: Self-asserted source
Gerard Muñoz-Pujol

Education and qualifications (3)

UOC-UB: Barcelona, ES

2021 to 2023 | Master in Bioinformatics and Biostatistics
Education
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Gerard Muñoz-Pujol

University of Barcelona: Barcelona, ES

2016 to 2017 | Master in Neuroscience
Education
Source: Self-asserted source
Gerard Muñoz-Pujol

Universitat Rovira i Virgili: Tarragona, Catalunya, ES

2012 to 2016 | Degree: Biochemistry and Molecular Biology
Education
Source: Self-asserted source
Gerard Muñoz-Pujol

Professional activities (2)

Agència de Gestió d'Ajuts Universitaris i de Recerca: Barcelona, ES

2024 | Grant for doctoral dissertations in Catalan
Distinction
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Gerard Muñoz-Pujol

Asociación Española de Errores Congénitos del Metabolismo (AECOM): Madrid, Madrid, ES

2023-10-27 | Premio a la mejor Comunicación Oral, XIV Congreso Nacional de Errores Congénitos del Metabolismo
Distinction
Source: Self-asserted source
Gerard Muñoz-Pujol

Works (13)

CLINICAL AND MOLECULAR CHARACTERISATION OF SLC31A1-RELATED NEURODEVELOPMENTAL DISORDER.

2024-11-29 | Preprint
Contributors: Natalia Juliá-Palacios; Frederic Tort Escalé; Maroofian R; Aida Bertoli-Avella; Marta Gómez-Chiari; Jordi Muchart; Abraham Jose Paredes-Fuentes; Maria del Mar O'Callaghan; Irene S. Machado-Casas; Ingrid Cristian et al.
Source: Self-asserted source
Gerard Muñoz-Pujol

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

Molecular Genetics and Metabolism
2024-07 | Journal article
Part of ISSN: 1096-7192
Contributors: Blai Morales-Romero; Gerard Muñoz-Pujol; Rafael Artuch; Angels García-Cazorla; Mar O'Callaghan; Jolanta Sykut-Cegielska; Jaume Campistol; Pedro Juan Moreno-Lozano; Machteld M. Oud; Ron A. Wevers et al.
Source: Self-asserted source
Gerard Muñoz-Pujol via Crossref Metadata Search

CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders

Journal of Inherited Metabolic Disease
2023-11 | Journal article
Contributors: Gerard Muñoz‐Pujol; Olatz Ugarteburu; Eulàlia Segur‐Bailach; Sonia Moliner; Susana Jurado; Glòria Garrabou; Mariona Guitart‐Mampel; Judit García‐Villoria; Rafael Artuch; Carme Fons et al.
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Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

International Journal of Molecular Sciences
2023-08-01 | Journal article
Contributors: Luisa Arrabal; Gerard Muñoz-Pujol; Inmaculada Medina Martínez; Laura Gort; Judit García-Villoria; Susana Roldán; Frederic Tort; Antonia Ribes
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Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

Brain Pathology
2022-11-30 | Journal article
Part of ISSN: 1015-6305
Part of ISSN: 1750-3639
Contributors: Gerard Muñoz‐Pujol; Juan D. Ortigoza‐Escobar; Abraham Jose Paredes-Fuentes; Cristina Jou; Olatz Ugarteburu; Laura Gort; Delia Yubero; Angels García‐Cazorla; Mar O'Callaghan; Jaume Campistol et al.
Source: Self-asserted source
Gerard Muñoz-Pujol

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

International Journal of Molecular Sciences
2022-10-15 | Journal article
Contributors: Gerard Muñoz-Pujol; Socorro Alforja-Castiella; Ricardo Casaroli-Marano; Blai Morales-Romero; Judit García-Villoria; Vicente A. Yépez; Julien Gagneur; Mirjana Gusic; Holger Prokisch; Frederic Tort et al.
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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

The Journal of Molecular Diagnostics
2022-05-05 | Journal article
Part of ISSN: 1525-1578
Source: Self-asserted source
Gerard Muñoz-Pujol

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Genome Medicine
2022-04-05 | Journal article
Part of ISSN: 1756-994X
Source: Self-asserted source
Gerard Muñoz-Pujol

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Clinical genetics
2022-01-20 | Journal article
Source: Self-asserted source
Gerard Muñoz-Pujol

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

MedRxiv
2021 | Journal article
Contributors: Yepez, V. A.; Gusic, M.; Kopajtich, R.; Mertes, C.; Smith, N. H.; Alston, C.; Berutti, R.; Blessing, H.; Ciara, E.; Fang, F. et al.
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Generation of Glutaric Aciduria type-I cellular models and phenotype rescue by GCDH targeted gene edition

Human Gene Therapy
2021 | Journal article
Contributors: Segur-Bailach, E.; Gea-Sorli, S.; Mateu-Bosch, A.; Munoz-Pujol, G.; Tort, F.; Ribes, A.; Garcia-Villoria, J.; Fillat, C.
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Generation of Glutaric Aciduria type-I cellular models and phenotype rescue by GCDH targeted gene edition

Human Gene Therapy
2021 | Journal article
Contributors: Segur-Bailach, E.; Gea-Sorli, S.; Mateu-Bosch, A.; Munoz-Pujol, G.; Tort, F.; Ribes, A.; Garcia-Villoria, J.; Fillat, C.
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The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

Genes
2021-10-09 | Journal article
Part of ISSN: 2073-4425
Source: Self-asserted source
Gerard Muñoz-Pujol