Huntington’s Research: Everybody’s Concern

Although HD attracted considerable attention from scientists in the early 20th century, there was little sustained research on the disease until the late 1960s when the Committee to Combat Huntington's Disease and the Huntington's Chorea Foundation, later called the Hereditary Disease Foundation, first began to fund research and to campaign for federal funding. The Congress established the Commission for the Control of Huntington's Disease and Its Consequences in 1977, which made a series of important recommendations. From then on, Congress has provided consistent support for federal research, primarily through the National Institute of Neurological Disorders and Stroke, the government's lead agency for biomedical research on disorders of the brain and nervous system. The effort to find cure for HD proceeds along the following lines of inquiry, each provides important information about the disease:

Basic neurobiology. Since the HD gene has been located, investigators in the field of neurobiology-which encompasses the anatomy, physiology, and biochemistry of the nervous system-are continuing to study the HD gene with an eye toward understanding how it causes disease in the human body.

Clinical research. Medical experts like neurologists, psychologists, psychiatrists, and other investigators are improving our understanding of the symptoms and progression of the disease in patients while attempting to develop new therapeutics.

Imaging. Medical and scientific investigations using PET and other technologies are enabling scientists to see what the defective gene does to various structures in the brain and how it affects the body's chemistry and metabolism.

Animal models. Common laboratory animals such as mice are being bred in the hope of duplicating the clinical features of HD and can soon be expected to help scientists learn more about the symptoms and progression of the disease.

Fetal tissue research. Medical investigators are implanting fetal tissue in rodents and nonhuman primates with the hope that success in this area will lead to understanding, restoring, or replacing functions typically lost by neuronal degeneration in individuals with HD.

Through time, these areas of research are slowly converging and, in the process, are yielding important clues about the gene's relentless destruction of mind and body. The NINDS has been always supporting much of this exciting work.

Molecular Genetics

For 10 years, scientists focused on a segment of chromosome 4 and, in 1993, finally isolated the HD gene. The procedure of isolating the responsible gene - motivated by the desire to find a cure - was more difficult than anticipated. Scientists do now believe that identifying the location of the HD gene is the first step on the road to a cure.

Finding the gene that has an HD involved an intense molecular genetics research effort with cooperating investigators from around the globe. The collaborating scientists announced in 1993 that they had isolated the unstable triplet repeat DNA sequence that has the HD gene. Scientific investigators relied on the NINDS-supported Research Roster for Huntington's disease, based at Indiana University in Indianapolis, to accomplish this work. When it first started in 1979, the roster contains data on many American families with HD, provides statistical and demographic data to scientists, and serves as a liaison between investigators and specific families. The research provided the DNA from many families affected by HD to investigators involved in the search for the gene and was an important component in the identification of HD markers.

For many years, NINDS-supported investigators involved in the search for the HD gene made yearly visits to the largest known kindred with HD - 14,000 individuals - who live on Lake Maracaibo in Venezuela. The ongoing trips enable scientists to study inheritance patterns of several interrelated families.