Hospital Clínico Universidad de Chile
Santiago, Chile
Country
Chile
Institution
Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile Neuromuscular Unit, Laboratorio
de Miología, Clínica Dávila Recoleta, Santiago, Chile
Education summary
- Médico (MD), La Plata National University (UNLP), Argentina, 1989
- Doctor of Phylosophy (PhD) Neurobiology, University of Wales, College of Cardiff, 1994
- Médico Cirujano (MD), University of Chile (Argentinian Title Revalidation), 1995
- Adult Neurology, University of Chile, 1998-2001
- Clinical Electrophysiology of Nerve and Muscle (EMG-NCS), University of Chile, 2004-2005
- Diplome Interuniversitaire de Myologie, Université Pierre et Marie Curie & Université Aix-Marseille, France, 2005-2006
- Training in neuromuscular histopathology: - Hospital Garrahan, Buenos Aires, Argentina. Dr. Ana Lia Taratuto, March-April, 2001
- Laboratoire de Pathologie Musculaire, Institut de Myologie de Paris, France, Dr. Norma Romero and Prof. Michel Fardeau (2005-2006),
- EM Muscle Pathology, Dr. Norma B. Romero, October 2016-February 2017.
Career summary
My scientific career began at the beginning of my medical studies, I became instructor of histology and engaged as a research assistant at the Centro de Estudios Endocrinos, Medical Sciences School, University of La Plata (UNLP), I became later Pathology instructor at UNLP and later at University of Buenos Aires (UBA) (1986-1991). In 1990 I started a Residency that I didn’t finish, in Pathology, at the Hospital de Clínicas, UBA (1990-1991). I moved to the UK to carry out my doctoral studies in Neurobiology (1991-1994). In 1995 I was appointed Professor at the Department of Morphology at the School of Medicine, University of Chile, and in 1998 I undertook the Residency in Adult Neurology at the Clinical Hospital University of Chile (1998-2001), where I became interested in neuromuscular disorders and pathology. I trained with Dr AL Taratuto in Buenos Aires, Argentina, and later at the Institute de Myology of Paris, mentored by Dr N. Romero, Dr A. Urtizberea and Prof M. Fardeau (2005-2006), where I trained in muscle pathology and studied the DIU of Myology. Since the beginning, I was interested in fundamental science and pathology teaching and research, clinical interests in neurology appeared later. Myology emerged as a discipline where I could naturally combine all my interests and previous experience, to contribute to an underdeveloped field in Chile. Back in Chile in 2007, I became strongly engaged in translational NMD and myology, establishing my clinical, academic and scientific practice in Chile until now, with extensive international collaborations.
What is the personal or professional achievement you’re most proud of?
None in particular, I am very proud and happy to humbly contribute to myology in the Latin American region to promote education of colleagues and help in the measure of the possible the patients, frequently deprived of any possibilities of diagnosis and treatment.
From a scientific perspective I have contributed with the description of some histological myopathy phenotypes such as the necklace fibre myopathy (doi: 10.1007/s00401-008-0472-1), recessive forms of RYR1-related myopathy (doi: 10.1111/j.1365-2990.2010.01149.x), nemaline dense mass protein myopathy (doi: 10.1093/jnen/nlab139) and congenital tropomyosin 3 nemaline myopathy with caps and CFTD (doi: 10.1016/j.nmd.2022.05.014). We contributed with the early descriptions of muscle MRI upper limb findings in patients with dysferlinopathy (doi: 10.1002/mus.25045) and the use of heat maps in MRI (doi: 10.1002/mus.26403), and introduce the use of MRI with myology criteria in Chile. I have also recognized dysferlinoathy in Chile (doi: 10.1089/gtmb.2008.0091; doi: 10.1002/mus.24685), and he enabled the incorporation of patients with dysferlinopathy into international studies (https://www.jain-foundation.org/patients-clinicians/how-to-take-action/clinical-trials-studies-and-surveys/cos2/cos2-study-sites/)
We have described the genetic profile of patient with LGMD and weakness in Chile (doi: 10.3390/genes13061076), more recently I have contributed with the detection of genetic cause of the nine more frequently LGMD and Pompe Disease in Latin America (doi: 10.1186/s13023-019-1291-2) and globally (doi: 10.3389/fgene.2024.1477291).
Finally, one of the projects that, without a doubt, I am proud of is being one of the leaders of the myology education initiative named Euro-Latin American Summer School of Myology (EVELAM), implemented for first time in Chile, in 2008, and that is held every year since in a different cities and countries in Latin America, approaching myology in Spanish and Portuguese to the region reaching more than 3000 students and disseminating myology and rare diseases through the continent.
Why did you first join the WMS?
Because it was one of the two right places where to establish network and community in the field of myology, with the perspective we currently do, which is particular in many ways and doesn't fit completely in other medical disciplines such as Neurology for example.
What is your goal in joining the Executive Board?
My interest is to continue contributing with the development of the discipline globally in an inclusive and holistic way, also to bring over the insight and vision of the Latin American region where I practice the profession.
