(1833 - 1889)
Médico y pedagogo. Miembro fundador de la Real Academia de Ciencias Médicas, Físicas y Naturales de la Habana, en 1861. Además fue miembro corresponsal de la Sociedad de Medicina Legal de Nueva York, Estados Unidos.
Biomedical Sciences
2003 | Endophenotypical markers for the identification of genes and other modifying factors of clinical expressions of the Spinocerebelum Ataxia type 2 (SCA2)
Main executives entity: Center for Research and Rehabilitation of Hereditary AtaxiasAtaxias Hereditarias
Main author: Luis Velázquez Pérez.
Coauthors: Gilberto Sánchez Cruz, Edilberto Martínez Góngora, Nieves Santos Falcón y Nalia Canales Ochoa

This research is backed up by the 15 years longitudinal electrophysiological study of 55 SCA2 gene cariers. During this time, 19 persons got sick and 36 remains healthy. Results proved the appearance of electrophysiological alterations before symtoms appear and precisely its early diagnosis can be the best way to delay the lounching of the desease.

Study of the saccadic ocular movement, demostrating alterations in the 100% of SCA2 , over a sample of 140 healthy persons. It is stated the significant correlation among the age the desease starts, the clinic scale and the size of the pathologic allele; evolution time is not correlated.

Markers which allow detecting neurophysiological alterations in absence of a desease clinical picture are detected. These studies have a high scientific novelty and, on the basis of the findings, different evoluting stages of the pathogenic SCA2 induced neurodegenerative process are described.

The greatest importance of this research lays on a superior characterization of the desease.

More than 30 presentations in events, 9 publications, several awards in Science and Technology Forum, an honorable mention in Annual National Health Award ceremony and a doctorate thesis.