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The Human Variome Project is pleased to announce that Venezuela has joined the international Project as an HVP Country Node. The HVP Venezuelan Node is a combined initiative of the Venezuelan Genetics Society and several academic and research institutions actively involved in the field of human and medical genetics.

The Venezuelan Node  was established in the Hospital de Clìnicas Caracas- Unidad de Genética , Hospital  Vargas de Caracas, Escuela de Medicina Vargas, UCV and will work with  Instituto de Estudios Avanzados (IDEA) and the Instituto de Investigaciones Cientìficas  (IVIC) in Caracas and with the Instituto de Investigaciones Genèticas Dr. Heber Villalobos Cabrera in Maracaibo, estado Zulia. Authorities at the Genetics Unit, Hospital Vargas de Caracas, Escuela de Medicina JM Vargas, Facultad de Medicina, Universidad Central de Venezuela and Hospital de Clínicas Caracas have agreed to host the computational infrastructure for the Venezuelan Node.  A computer center adapted for data analysis and communication, using the LOVD3 system, will be used as suggested by the HVP organization.

The HVP Venezuelan Node will be a national repository of genetic variation information and will begin its work with a focus on cystic fibrosis, Duchenne/Becker’s muscular dystrophies, haemophilias A and B, Fragile X Syndrome, Gaucher disease, Autism gene candidates (GABRB3, GABRG3, GABRA5), Colon Cancer . Prostate Cancer, Spinal Muscular Atrophy, polymorphisms in new mutations in metilentetrahidrofolato reductasa (MTHFR), Huntington’s disease, spinocerebellar ataxias, and genetic polymorphisms associated with cardiovascular disease. The Venezuelan node will be working in collaboration with the Spanish and Mexican Node, Especially in new mutation determinations in neurogenetic conditions.


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Guest Tuesday, 28 September 2021