Antonio Martínez Monseny

I began my career at SJD Barcelona Children's Hospital as a resident in Paediatrics and Specialised Areas. During my final year of residency, my interest in clinical genetics led me to undertake training rotations at Boston Children’s Hospital and at La Fe University and Polytechnic Hospital in Valencia. I subsequently worked as a senior registrar in clinical genetics and dysmorphology at the Hospital de Nens Foundation and the Corachan Clinic, and also as a senior registrar in paediatric inpatient care, the Chronic Patients’ Unit and the Department of Genetic and Molecular Medicine at SJD Barcelona.

I am currently Head of the Department of Medical Genetics, where I carry out clinical, teaching and research work on rare genetic disorders. I am also President of the Association of Medical Practitioners at SJD Barcelona Children's Hospital.

Training

• European Certificate in Medical Genetics and Genomics and accreditation in Clinical Genetics, Asociación Española de Genética Humana.
• Doctor of Medicine, Universitat de Barcelona, awarded the Extraordinary Prize by the Academic Senate, 2021.
• Senior Management Programme for Healthcare Organisations, IESE Business School, 2024.
• Medical geneticist at IVI.
• Resident in Paediatrics and Specialised Areas, SJD Barcelona Children's Hospital, 2011-2015.
• Bachelor of Medicine and Surgery, Universidad de Valencia, 2010.

International experience

• Training placements in clinical genetics at Boston Children’s Hospital and Rady Children’s Hospital in San Diego.

Scientific activity

My research focuses on rare genetic diseases, dysmorphology, neurodevelopmental disorders, genotype-phenotype correlation, and the application of artificial intelligence and new technologies to diagnosis. I have participated in and led projects on genomic diagnosis, advanced phenotyping and the implementation of genomic medicine, notably RapidGene, GENEBORN and PhenomIA, and I am actively involved in the Únicas SJD strategy.

I am the author of more than fifty scientific publications and am actively involved in the training of healthcare professionals.

Teaching

• Director of the training programmes: “ConGenia: How do you understand, apply and communicate genetics?”, the “Genetics Bootcamp” and the “Genetic Counselling and Dysmorphology Olympiad (OADIS)”.
• Paediatrics Resident Supervisor at SJD Barcelona Children's Hospital.
• Lecturer at the Universitat de Barcelona on master’s programmes and courses in clinical genetics.