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Neurogenética en el Perú, ejemplo de investigación traslacional

Bibliographic Data

ID15533407
AuthorsPilar Mazzetti (0000-0002-4376-847X, National University of San Marcos, corresponding author), Miguel Inca‐Martinez (0000-0003-3770-0476, Instituto Nacional de Neurología y Neurocirugía), Miguel Inca-Martinez, Indira Tirado-Hurtado (0000-0002-5820-970X, Instituto Nacional de Neurología y Neurocirugía), Karina Milla‐Neyra (0000-0002-7699-4393, Instituto Nacional de Neurología y Neurocirugía), Karina Milla-Neyra, Gustavo Silva-Paredes (0000-0001-6132-2239, Instituto Nacional de Neurología y Neurocirugía), Anastasia Vishnevetsky (0000-0002-0269-7441, National Institute of Mental Health), Mario Cornejo‐Olivas (0000-0001-6313-5680, Instituto Nacional de Neurología y Neurocirugía), Mario Cornejo-Olivas
Year2015
Volume32
Issue4
Pages787-787
Publication date2015-12-06
Open AccessYes
TypeARTICLE
VenueRevista Peruana de Medicina Experimental y Salud Pública (JOURNAL)
Journal identifiersISSN: 1726-4634 • E-ISSN: 1726-4642
PublisherNational Institute of Health of Peru (PUBLISHER • PE)
DOI10.17843/rpmesp.2015.324.1773
PMID26732930
OpenAlexW2195673014
LanguageES
References cited3

Neurogenetics is an emerging discipline in Peru that links basic research with clinical practice. The Neurogenetics Research Center located in Lima, Peru is the only unit dedicated to the specialized care of neurogenetic diseases in the country. From the beginning, neurogenetics research has been closely linked to the study of Huntington s Disease (HD), from the PCR genotyping of the HTT gene, to the current haplogroup studies in HD. Research in other monogenic diseases led to the implementation of alternative methodologies for the genotyping of Fragile X and Myotonic Dystrophy Type 1. Both, national and international collaborative efforts have facilitated the discovery of new genetic variants in complex multigenic diseases such as Parkinson s disease and Alzheimer s disease. Additionally, multidisciplinary education and mentoring have allowed for the training of new neurogenetics specialists, supporting the sustained growth of the discipline in the country. The promotion of research in Peru has spurred the growth of neurogenetics research, although limitations in infrastructure, technology, and education remain a challenge for the further growth of research in this field

Biobank · Biology · Disease · Multidisciplinary approach · Neurogenetics · Pathology · Social science · Sociology · Genetic Neurodegenerative Diseases · Medicine · Genetics

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