Hereditary Genomics Research
Huntington Disease in Venezuela and Other Studies
The National Institute of Health, National Institute of Neurological Disorders and Stroke funds the project, Huntington Disease in Venezuela and Other Studies. The funds are awarded to the Hereditary Disease Foundation from which Indiana University has a subcontract to collaborate in this research project.
In 1955, Dr. America Negrette diagnosed HD in members of a large group if inter-related families living in fishing villages along the shores of Lake Maracaibo, Venezuela. A recommendation from the Commission for the Control of Huntington Disease and Its Consequences led to a trip in April, 1979, by the Principal Investigator, Dr. Nancy Wexler. The purpose of her trip was to ascertain the feasibility of studying this unique family. Beginning in 1981 and annually thereafter, a group of researchers from around the world have visited this community and studied the Venezuelan kindred. During these trips updated family information is obtained including information about births deaths, and persons who may now be showing symptoms of HD. Biological specimens are obtained, including blood, sperm and occasionally autopsy materials. Several thousand neurological exams are performed as well as hundreds of neuro-psychological batteries. In addition, basic healthcare needs are attended to. To date, the family pedigree numbers over 15,000 individuals.
P. Michael Conneally, and Jacqueline M. Gray, researchers from Indiana University, attend these annual trips to Venezuela. In addition, Indiana University is responsible for maintaining and computerizing the data obtained during these trips. Indiana University provides updated pedigrees, various sets of data sorted in numerous ways and thousands of specimen labels for each annual trip.