Neurogenetics in Peru, example of translational research

Authors

  • Pilar Mazzetti Centro de Investigacion Basica en Neurogenetica, Instituto Nacional de Ciencias Neurológicas, Lima, Peru. Facultad de Medicina Humana, Universidad Nacional Mayor de San Marcos. Lima, Peru.
  • Miguel Inca-Martínez Centro de Investigacion Basica en Neurogenetica, Instituto Nacional de Ciencias Neurologicas, Lima, Peru.
  • Indira Tirado-Hurtado Centro de Investigacion Basica en Neurogenetica, Instituto Nacional de Ciencias Neurologicas, Lima, Peru.
  • Karina Milla-Neyra Centro de Investigación Basica en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
  • Gustavo Silva-Paredes Centro de Investigacion Basica en Neurogenetica, Instituto Nacional de Ciencias Neurologicas, Lima, Peru.
  • Anastasia Vishnevetsky Centro de Investigacion Basica en Neurogenetica, Instituto Nacional de Ciencias Neurologicas, Lima, Peru. Northern Pacific Global Health Research Fellows Training Consortium. Bethesda, Maryland, EE. UU. Perelman School of Medicine at the University of Pennsylvania. Philadelphia, EE. UU.
  • Mario Cornejo-Olivas Centro de Investigacion Basica en Neurogenetica, Instituto Nacional de Ciencias Neurologicas, Lima, Perú.

DOI:

https://doi.org/10.17843/rpmesp.2015.324.1773

Keywords:

Translational research, Neurology, Genetics

Abstract

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.

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Published

2015-12-06

Issue

Section

Symposium

How to Cite

1.
Mazzetti P, Inca-Martínez M, Tirado-Hurtado I, Milla-Neyra K, Silva-Paredes G, Vishnevetsky A, et al. Neurogenetics in Peru, example of translational research. Rev Peru Med Exp Salud Publica [Internet]. 2015 Dec. 6 [cited 2024 Mar. 29];32(4):787-93. Available from: https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/1773

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