(1838 - 1904)
Zoólogo, botánico y médico. Desarrolló una amplia labor en la Real Sociedad Económica de Amigos del País de La Habana. Autor de un depurado estilo literario, dio a conocer numerosas contribuciones científicas.
Biomedical Sciences
2005 | Obtention of the first cuban line of transgenic mice as generic model of study for Spinal Cerebellum type 2 genetic desease (SCA2)
Main author: Jorge Agustín Aguiar Santiago
Coauthors: Julio Fernández, Anselmo Aguilar, Issel Mendoza, María Vázquez, José Suárez.
Summary:

Spinal Cerebellum Ataxia type 2 ( SCA2 ) is a hereditary desease caused by the expansion up to 32 repetitions or more, of codon CAG, inside the sequence of SCA2 gene exon 1. The highest world prebvalence is in Holguín, Cuba.

this work describes the obtention of a transgenic mice model expressing the SCA2 human transgene with 75 CAG repetitions. It has a transgene expression similar to the human one and manifests the desease clinical.

It constitutes the first world report on the desease transgenic model.

It has a double scientific impact: it is the first transgenic mice model obtained in Cuba and provides a worldwide unique model to study SCA2 etiopathonesis and treatment.

It is supported by a patent request, 3 scientific publications in international journals of impact and presentations in several international and national scientific events.