INVESTIGADORES
DOPAZO Hernan Javier
congresos y reuniones científicas
Título:
A Web Server for the Standardization of Molecular Diagnosis of Huntington?s Disease in Latin America
Autor/es:
CRISTIAN ROHR, FEDERICO E. MICHELI, KATHERINE BAZLEY GRIFFITHS, PEDRO CHANÁ CUEVAS NATALIA COSTA BAENA, PILAR MAZZETTI SOLER, ERNESTO SOLÍS AÑÉZ, VITOR TUMAS, HERNÁN DOPAZO & CLAUDIA PERANDONES.
Lugar:
Rosario
Reunión:
Congreso; IV Congreso de la Asociación Argentina de Bioinformática y Biología Computacional y IV Conferencia Internacional de la Sociedad Iberoamericana de Bioinformática; 2013
Institución organizadora:
Asociación Argentina de Bioinformática y Biología Computacional (A2B2C) y Sociedad Iberoamericana de Bioinformática (SolBio)
Resumen:
Huntington's disease (HD) is a midlife-onset disease, which strikes at amean age of 40 years, but its onset may vary from 4 to 80 years of age [1,2]. It is a progressive neurodegenerative disorder with primary neuropathologicalinvolvement of the basal ganglia. HD is invariably fatal,without periods of remission, and the course from onset to death averages15 to 17 years.It is worth mentioning that the confirmatory diagnosis in HD is carried outby means of the determination of the number of CAG expansions in the httgene [3]. This means that once diagnostic tests are conducted, anddepending on their results, therapeutic strategies will be established andthe identification of individuals at risk of suffering from the disease will beconducted, thus the relevance of the diagnostic determination from amedical, psychological and social point of view.Currently, in Argentina and other Latin American countries, HD diagnosis isnot consistent with international standards due to economic andtechnological constraints [4]. The standardization of molecular diagnosticsfor HD in Latin America [5] will seek to:● Bring the internationally-recognized standards for CAG predictive testingto Latin America.● Develop a framework for validation that could be widely implemented inLatin American laboratories to improve the overall quality of the HDgenetic testing services. At the same time, it should respect the need forflexibility imposed by regional requirements and regulations as well aspractical constraints such as testing volumes and resources.Here we present a web-based server (figure 1) specifically designed todevelop a feasibility study to be conducted in several testing facilities, inorder to standardize the molecular diagnosis of HD in Latin America.