Carlos Ignacio Ortez González

I work in clinical, electromyographic, genetic and pathological diagnosis and the treatment of patients with neuromuscular diseases in the Neuromuscular Diseases Unit of the SJD Barcelona Children's Hospital. This unit is one of the national reference centres (CSUR) and is part of the European Reference Network for ENM (ERN-EURO-NMD). Since 2009 I have participated as a researcher in multiple international clinical trials.

I have participated as author and co-author of book chapters, and articles in national and international magazines related to ENM. Currently, I am a clinical researcher in various translational research projects within the biomedical research of rare disease networks, principally interested in the group of congenital muscular dystrophies, spinal muscular atrophy, hereditary neuropathies and Duchenne muscular dystrophy, focusing on the study of natural history, functional assessment and biomarkers. I am also a collaborator and scientific advisor in different associations of patients with neuromuscular diseases.

My main motivation is to contribute to improving the well-being of patients and their families.

Training

• Master's in Clinical Electrodiagnosis. Universitat de Barcelona, 2015.
• Master's in Clinical Research. Universitat de Barcelona, 2009.
• Master’s in Neuropediatrics. SJD Barcelona Children's Hospital - Universitat de Barcelona, 2008.
• Master's in Neurosciences.nbsp;Universidad Pablo de Olavide. Sevilla, 2006.
• Specialist in Paediatrics and its specific areas. Hospital Bloom, (El Salvador), accredited by the Ministry of Health, Spain, 2006.
• Doctor of Medicine. Universidad El Salvador, accredited by the Ministry of Education, Science and Sports of Spain, 2002 

SEE PUBLICATIONS

International experience

• Paediatric Specialty at the Hospital de Niños Benjamín Bloom, accredited as a Paediatric Specialist in Spain. Universidad de El Salvador, 2003 – 2005. 
• Neuropediatrics taught residency at the Hospital de Niños Benjamín Bloom. Universidad de El Salvador, 2006.

Scientific activity

• Researcher in international registries of neuromuscular pathologies, since  2019.
• Researcher in a multicentre clinical trial in Pompe disease, since 2018.
• Researcher in a multicentre clinical trial in Mitochondrial Pathology (TK2 deficiency), since 2018.
• Researcher in multicentre clinical trials in child spinal muscular atrophy, since 2014.
• Researcher in multicentre clinical trials in Duchenne muscular dystrophy, since 2009.