Loreto Martorell Sampol
Molecular genetics. X fragile Syndrome. Myotonic dystrophy
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Spanish, Catalan and English
I am a biologist and, from 1991 to 1998, I worked on research in the field of Molecular Genetics. In 1992, I earned a Master's Degree in Diagnostic Genotyping in Biomedicine. The speciality of my degree dissertation was Molecular Biology and in 1998 I got my PhD in Genetics. I have been accredited as a specialist in Human Genetics by the Spanish Association of Human Genetics since 2000 and I am a specialist in Clinical Analysis and Clinical Genetics. From 1992 to 2004, I worked as a researcher at the Santa Creu i Sant Pau Hospital Research Institute. Since 2004 I am the head of the Molecular Genetics Department at the SJD Barcelona Children's Hospital. I have published over 50 articles in indexed international scientific journals.
- Biologist specialising in Clinical Analyses and Clinical Genetics. Qualified by the Official College of Biologists; registration COB26/32, 2001.
- Accreditation as a Specialist in Human Genetics from the Spanish Association for Human Genetics; AEGH Registration No. 31, 2000.
- PhD in Biological Sciences. Department of Genetics, University of Barcelona. Title: "Study of the instability of the Myotonic Dystrophy gene", 1998.
- Biology Degree thesis. Department of Fundamental Biology. University of the Balearic Islands (UIB). Title: "Molecular bases of Myotonic Dystrophy (DM) in the population of the Balearic Islands".
- Master's Degree in Diagnostic Genotyping in Biomedicine. Genetics Department, Faculty of Biology, University of Barcelona, 1992.
- Bachelor's Degree in Biological Sciences. University of the Balearic Islands (UIB), 1990.
- Short placements at the Institute for Biomedical and Life Sciences Division of Molecular Genetics. Glasgow University, Scotland, UK.
- Genetics Unit of Charing Cross and Westminster Medical School Hospital. London, UK.
- Participation in the research project: "Neurodegeneration with brain iron accumulation: clinical assessment and genetic characterisation by means of a Spanish multi-centre research network".
- Participation in the research project: "Phase IIA open-label clinical trial to study the absorption of a 10mg/mL isoniazid suspension for the treatment of tuberculosis infection in patients aged less than 6 years".
- Co-investigator in the project: "Phenotypic and molecular characterisation of coenzyme Q deficiency syndrome" Fis PI11/02350, 2012 - 2014.
- Co-investigator in the project: "Neonatal cerebral infarction: multidisciplinary research on pathogenic factors, new diagnostic and prognostic indicators, and impact on neurodevelopment and quality of life", PI08/1366.
- Co-investigator in the SJD 2011 end-of-residency project by Marta Olivares Muñoz: "Hirschprung disease and medullary thyroid carcinoma: two diseases in a single monogenic alteration".
- Participation in the research project: "Diagnosis, treatment and follow-up of primary and secondary defects of the synthesis of biogenic and pterine amines in paediatric patients with non-affiliated encephalopathies".
- Lecturer on the Master's Degree in Neuropaediatrics organised by the University of Barcelona, SJD University Hospital, 2016.
- Lecturer on the "Molecular Genetic Diagnosis" module as part of the Degree in Genetics. Seminar title: "Molecular genetic diagnosis of DM1 myotonic dystrophy". Autonomous University of Barcelona.
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