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 very poor, 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. More than 14,000 of these individuals are currently living. 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 from 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.

Casa Hogar Nursing Home

Current status of the Casa Hogar Nursing Home:

Unfortunately, with compromised safety and limited access to food in Venezuela, the nursing home part of the Casa Hogar is not currently operational. Patients are not currently living in the Casa Hogar. However, counseling is offered at the Casa Hogar to persons living with Huntington's disease and members of HD families in the community.

We are hopeful that this situation will change soon for the benefit of the patients, the community and the country.

Background History:  The HDF opened the “Casa Hogar House of Love and Hope” nursing home in Venezuela in 1999. The Casa Hogar was the brainchild of Dr. Margot de Young, a dedicated Venezuelan physician who has been working with the HDF since 1991. She had the idea of transforming “El Toro Rojo” (the Red Bull), a dingy bar in Maracaibo, into a haven for HD families. Dr. De Young ran the Casa Hogar with the help of two highly trained nurses, and a core staff of approximately 30 auxiliary nurses, all of whom are family members of people with HD. Dr. de Young gave top priority to patients’ relatives when hiring new employees. For many years, Dra. Margot de Young and her nursing and core staff provided nursing home and basic medical care and food for patients and families suffering from Huntington’s disease.

The Casa Hogar was built to serve the community that so generously donated samples and provided key information leading to the discovery of the Huntington’s gene.

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. Yet sadly, they continue to suffer from extreme poverty, deprivation and duress. They are subject to all the diseases and challenges of life in a small, impoverished fishing village.

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 at the Casa Hogar for many years.

We hope that it becomes possible very soon to offer expanded services and support to the Huntington's community in Venezuela through the Casa Hogar.