Spinocerebellar ataxia type 2 is a degenerative disease that causes physical disability and, ultimately, prostration and death. Globally, reported prevalence is around 3 cases per 100,000 population and Cuba has the world’s highest rates of the disease, affecting both patients and their at-risk descendants. In Holguín Province, which has the country’s highest concentration of cases, incidence is 4.4 per 100,000 population and prevalence is 40.2 per 100,000 population. In 2000, a specialized research center was established in that province. Supplied with the necessary equipment and human resources, the center conducted national multidisciplinary studies involving molecular biology, clinical care, epidemiology, psychology, clinical neurophysiology, imaging, clinical genetics and community medicine, among others. A training and continuing education program also raised scientific capacity. Priority was given to developing international collaborations for academic exchange and training of Cuban researchers.

Multiple results from research involving clinical and epidemiologic characterization of the disease, identification of biomarkers and therapeutic targets, genetic association studies, clinical trials and characterization of the disease’s preclinical stages have been introduced in care of patients and their at-risk descendants. This has been accomplished through various programs including personalized rehabilitation, predictive diagnosis and social services. These results have also been published in high-impact scientific journals and received national and international awards. Such an experience in the context of Cuba’s national health system—which is universal, free, accessible, comprehensive, prevention-oriented and with a record of international cooperation—demonstrates the possibility of providing quality care to affected families. Incorporating research findings into medical practice, with the resulting impact on patients’ health and wellbeing, is a practical example of translational medicine in Cuba.

KEYWORDS Spinocerebellar ataxia type 2, health services research, biomedical research. health care delivery, translational medicine, translational research, health equity, Cuba

In today’s globalized world, scientific endeavor and its conclusions rest more than ever on dialogue and the ability to critically assess a full and transparent array of evidence, to maximize opportunities for accuracy and truth to prevail. But such a normal, essential and prudent process has not been followed in the case of the health […]