Title
Neurogenetics in peru, example of translational research
Other title
Neurogenética En El perú, ejemplo de investigación traslacional
Date Issued
October 2015
Access level
open access
Resource Type
journal article
Author(s)
Publisher(s)
Instituto Nacional de Salud
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.
Start page
787
End page
793
Volume
32
Issue
4
Language
Spanish
OCDE Knowledge area
Neurociencias
Genética humana
Neurología clínica
Subjects
Scopus EID
2-s2.0-84954458554
PubMed ID
Source
Revista Peruana de Medicina Experimental y Salud Publica
ISSN of the container
1726-4634
Sponsor(s)
Fogarty International Center R25TW009345 FIC
Sources of information:
Directorio de Producción Científica
Scopus