Huntington's Disease in Venezuela

In 1979, the U.S.-Venezuela Collaborative Research Project, a team of top international doctors and scientists, took the first of many trips to rural fishing villages along the shores of Lake Maracaibo in the state of Zulia, Venezuela. These villages have the highest concentration of Huntington’s disease (HD) in the world and the largest family living with the disease. The founder of this family lived in the early 1800’s. Her family tree encompasses over 18,000 individuals spanning 10 generations. Many are either affected by HD or at risk of developing this devastating and inevitably fatal neurodegenerative disease.

This pioneering collaborative research in Venezuela has led to critical breakthroughs in understanding genetic disease and advancing medical science. Some key highlights of the research are:

In 1983, the location of a HD genetic marker on chromosome 4 was discovered using pioneering new techniques of recombinant DNA technology. Our successful demonstration that these new scientific strategies could be used to locate disease genes opened the door for finding genes causing many different kinds of disorders, including cancer, heart disease, arthritis, psychiatric disorders and many more. Research is still underway to find genes that predispose individuals to other diseases.

In 1993, the gene for HD itself was discovered and HD was found to be caused by the abnormal expansion of a sequence in that gene. The capture of the HD gene also helped scientists realize that similar expansions in other genes are responsible for a whole family of disorders, most of which affect the brain, develop later in life, and are fatal.

Tissues generously donated by the Venezuelan families with HD are now located in international cell banks and are studied by investigators worldwide to understand more about human genetics in health and disease.

Our research and collaboration with this community has been essential to solving many of the scientific puzzles of HD. These families have helped tremendously in enabling researchers to discover many facets of this complex illness.

The Hereditary Disease Foundation donated and secured funding to help provide sustenance and care for these families, including medicines and food, all of which were provided free of charge for many years.

 
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