title: [Neurogenetics in Peru, example of translational research].
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 Huntingtons 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 Parkinsons disease and Alzheimers 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.
authors.affiliation: Centro de Investigación Básica en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú
authors.forename: Pilar
authors.initials: P
authors.lastname: Mazzetti
authors.affiliation: Centro de Investigación Básica en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú
authors.forename: Miguel
authors.initials: M
authors.lastname: Inca-Martínez
authors.affiliation: Centro de Investigación Básica en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú
authors.forename: Indira
authors.initials: I
authors.lastname: Tirado-Hurtado
authors.affiliation: Centro de Investigación Básica en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú
authors.forename: Karina
authors.initials: K
authors.lastname: Milla-Neyra
authors.affiliation: Centro de Investigación Básica en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú
authors.forename: Gustavo
authors.initials: G
authors.lastname: Silva-Paredes
authors.affiliation: Centro de Investigación Básica en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú
authors.forename: Anastasia
authors.initials: A
authors.lastname: Vishnevetsky
authors.affiliation: Centro de Investigación Básica en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú
authors.forename: Mario
authors.initials: M
authors.lastname: Cornejo-Olivas
mesh_terms: D005838:Genotype; D006801:Humans; D009422:Nervous System Diseases / Q000235:genetics*; D010568:Peru; D057170:Translational Research, Biomedical