How have advances in genetic technology modified movement disorder nosology?

Autores
Sturchio, A.; Marsili, L.; Mahajan, A.; Grimberg, M.B.; Kauffman, Marcelo Andres; Espay, A.J.
Año de publicación
2020
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The role of genetics and its technological development have been fundamental in advancing the field of movement disorders, opening the door to precision medicine. Starting from the revolutionary discovery of the locus of the Huntington’s disease gene, we review the milestones of genetic discoveries in movement disorders and their impact on clinical practice and research efforts. Before the 1980s, early techniques did not allow the identification of genetic alteration in complex diseases. Further advances increasingly defined a large number of pathogenic genetic alterations. Moreover, these techniques allowed epigenomic, transcriptomic and microbiome analyses. In the 2020s, these new technologies are poised to displace phenotype-based classifications towards a nosology based on genetic/biological data. Advances in genetic technologies are engineering a reversal of the phenotype-to-genotype order of nosology development, replacing convergent clinicopathological disease models with the genotypic divergence required for future precision medicine applications.
Fil: Sturchio, A.. University of Cincinnati; Estados Unidos
Fil: Marsili, L.. University of Cincinnati; Estados Unidos
Fil: Mahajan, A.. University of Cincinnati; Estados Unidos
Fil: Grimberg, M.B.. University of Cincinnati; Estados Unidos
Fil: Kauffman, Marcelo Andres. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina
Fil: Espay, A.J.. University of Cincinnati; Estados Unidos
Materia
DYSTONIA
GENETICS
HUNTINGTON’S DISEASE
MOVEMENT DISORDERS
PARKINSONISM
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/152108
Acceder
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network_name_str CONICET Digital (CONICET)
spelling How have advances in genetic technology modified movement disorder nosology?Sturchio, A.Marsili, L.Mahajan, A.Grimberg, M.B.Kauffman, Marcelo AndresEspay, A.J.DYSTONIAGENETICSHUNTINGTON’S DISEASEMOVEMENT DISORDERSPARKINSONISMhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3The role of genetics and its technological development have been fundamental in advancing the field of movement disorders, opening the door to precision medicine. Starting from the revolutionary discovery of the locus of the Huntington’s disease gene, we review the milestones of genetic discoveries in movement disorders and their impact on clinical practice and research efforts. Before the 1980s, early techniques did not allow the identification of genetic alteration in complex diseases. Further advances increasingly defined a large number of pathogenic genetic alterations. Moreover, these techniques allowed epigenomic, transcriptomic and microbiome analyses. In the 2020s, these new technologies are poised to displace phenotype-based classifications towards a nosology based on genetic/biological data. Advances in genetic technologies are engineering a reversal of the phenotype-to-genotype order of nosology development, replacing convergent clinicopathological disease models with the genotypic divergence required for future precision medicine applications.Fil: Sturchio, A.. University of Cincinnati; Estados UnidosFil: Marsili, L.. University of Cincinnati; Estados UnidosFil: Mahajan, A.. University of Cincinnati; Estados UnidosFil: Grimberg, M.B.. University of Cincinnati; Estados UnidosFil: Kauffman, Marcelo Andres. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; ArgentinaFil: Espay, A.J.. University of Cincinnati; Estados UnidosWiley Blackwell Publishing, Inc2020-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/152108Sturchio, A.; Marsili, L.; Mahajan, A.; Grimberg, M.B.; Kauffman, Marcelo Andres; et al.; How have advances in genetic technology modified movement disorder nosology?; Wiley Blackwell Publishing, Inc; European Journal of Neurology; 27; 8; 4-2020; 1461-14701351-5101CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/ene.14294info:eu-repo/semantics/altIdentifier/doi/10.1111/ene.14294info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:08:37Zoai:ri.conicet.gov.ar:11336/152108instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 10:08:38.064CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv How have advances in genetic technology modified movement disorder nosology?
title How have advances in genetic technology modified movement disorder nosology?
spellingShingle How have advances in genetic technology modified movement disorder nosology?
Sturchio, A.
DYSTONIA
GENETICS
HUNTINGTON’S DISEASE
MOVEMENT DISORDERS
PARKINSONISM
title_short How have advances in genetic technology modified movement disorder nosology?
title_full How have advances in genetic technology modified movement disorder nosology?
title_fullStr How have advances in genetic technology modified movement disorder nosology?
title_full_unstemmed How have advances in genetic technology modified movement disorder nosology?
title_sort How have advances in genetic technology modified movement disorder nosology?
dc.creator.none.fl_str_mv Sturchio, A.
Marsili, L.
Mahajan, A.
Grimberg, M.B.
Kauffman, Marcelo Andres
Espay, A.J.
author Sturchio, A.
author_facet Sturchio, A.
Marsili, L.
Mahajan, A.
Grimberg, M.B.
Kauffman, Marcelo Andres
Espay, A.J.
author_role author
author2 Marsili, L.
Mahajan, A.
Grimberg, M.B.
Kauffman, Marcelo Andres
Espay, A.J.
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv DYSTONIA
GENETICS
HUNTINGTON’S DISEASE
MOVEMENT DISORDERS
PARKINSONISM
topic DYSTONIA
GENETICS
HUNTINGTON’S DISEASE
MOVEMENT DISORDERS
PARKINSONISM
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv The role of genetics and its technological development have been fundamental in advancing the field of movement disorders, opening the door to precision medicine. Starting from the revolutionary discovery of the locus of the Huntington’s disease gene, we review the milestones of genetic discoveries in movement disorders and their impact on clinical practice and research efforts. Before the 1980s, early techniques did not allow the identification of genetic alteration in complex diseases. Further advances increasingly defined a large number of pathogenic genetic alterations. Moreover, these techniques allowed epigenomic, transcriptomic and microbiome analyses. In the 2020s, these new technologies are poised to displace phenotype-based classifications towards a nosology based on genetic/biological data. Advances in genetic technologies are engineering a reversal of the phenotype-to-genotype order of nosology development, replacing convergent clinicopathological disease models with the genotypic divergence required for future precision medicine applications.
Fil: Sturchio, A.. University of Cincinnati; Estados Unidos
Fil: Marsili, L.. University of Cincinnati; Estados Unidos
Fil: Mahajan, A.. University of Cincinnati; Estados Unidos
Fil: Grimberg, M.B.. University of Cincinnati; Estados Unidos
Fil: Kauffman, Marcelo Andres. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina
Fil: Espay, A.J.. University of Cincinnati; Estados Unidos
description The role of genetics and its technological development have been fundamental in advancing the field of movement disorders, opening the door to precision medicine. Starting from the revolutionary discovery of the locus of the Huntington’s disease gene, we review the milestones of genetic discoveries in movement disorders and their impact on clinical practice and research efforts. Before the 1980s, early techniques did not allow the identification of genetic alteration in complex diseases. Further advances increasingly defined a large number of pathogenic genetic alterations. Moreover, these techniques allowed epigenomic, transcriptomic and microbiome analyses. In the 2020s, these new technologies are poised to displace phenotype-based classifications towards a nosology based on genetic/biological data. Advances in genetic technologies are engineering a reversal of the phenotype-to-genotype order of nosology development, replacing convergent clinicopathological disease models with the genotypic divergence required for future precision medicine applications.
publishDate 2020
dc.date.none.fl_str_mv 2020-04
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/152108
Sturchio, A.; Marsili, L.; Mahajan, A.; Grimberg, M.B.; Kauffman, Marcelo Andres; et al.; How have advances in genetic technology modified movement disorder nosology?; Wiley Blackwell Publishing, Inc; European Journal of Neurology; 27; 8; 4-2020; 1461-1470
1351-5101
CONICET Digital
CONICET
url http://hdl.handle.net/11336/152108
identifier_str_mv Sturchio, A.; Marsili, L.; Mahajan, A.; Grimberg, M.B.; Kauffman, Marcelo Andres; et al.; How have advances in genetic technology modified movement disorder nosology?; Wiley Blackwell Publishing, Inc; European Journal of Neurology; 27; 8; 4-2020; 1461-1470
1351-5101
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/ene.14294
info:eu-repo/semantics/altIdentifier/doi/10.1111/ene.14294
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.13397

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