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Research - Where Are Your $$ Going?
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Research  - Where Are Your $$ Going?
By Jean Miller
For any one who may wonder what is being done with all the $$$ donated for Huntington's Disease research, you might just want to check out a few of the areas where those hard earned dollars/donations have been spent in 2002 alone.

I don't know about anyone else but, after just reading the 2002 research information alone, it gives me a good feeling to know that there are scientists and doctors from around the WORLD who are spending a significant portion of their lives looking for the ANSWERS to not only what causes
Huntington's Disease but for therapeutic treatment for the symptoms of HD too.
The below is only one website listing, I know there has been a lot more research in Huntington's Disease which may not be included here.
I, for one, will continue to support RESEARCH.......as well as Family services!
Lansbury Research
Center for Neurologic Diseases
Brigham and Women's Hospital, and Harvard Medical School
Please note that in most of the categories included on the following links the ref-erences are sorted with respect to publication date, and are listed from the latest to 1998.
Please use the "Search Form" to search for any keywords or phrases in the information provided in the above hyperlinks.
HD Areas of Research

Research on Huntington's Disease

Although Huntington's disease (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 Huntingtons Disease and the Huntingtons Chorea Foundation, later called the Hereditary Disease Foundation, first began to fund research and to campaign for federal funding.

In 1977, the U.S. Congress established the Commission for the Control of Huntington's Disease and Its Consequences, which made a series of important recommendations. Since then, Congress has provided support for research, largely through the National Institutes of Health (NIH).

Molecular Genetics

For 10 years, scientists focused on a segment of chromosome 4 and, in 1993, finally isolated the HD gene. Scientists anticipate that identifying the location of the HD gene will be a major step toward finding a cure.

Investigators searching for the HD gene evaluated the largest known kindred with HD, 14,000 individuals who live on Lake Maracaibo in Venezuela. By studying these people, scientists can detect patterns of inheritance in interrelated families.

The HD Gene and Its Product

Although scientists know that certain brain cells die in HD, the cause of their death is still largely unknown. The HD gene produces an abnormal version of a protein--which has been (rather confusingly) named huntingtin. The abnormal huntingtin protein causes damage to certain parts of the brain.

The huntingtin protein is actually necessary for life. Investigators hope to learn why the abnormal version of the protein damages only certain parts of the brain. One theory is that cells in these parts of the brain are sensitive to injury by this abnormal protein.

Cell Death in HD

Huntingtons Disease, Current Research

Scientists are paying close attention to the process of genetically programmed cell death that occurs deep within the brains of individuals with HD. This process involves a complex series of interlinked events leading to "cellular suicide."

Related areas of investigation include:

  • Overstimulation of cells by natural chemicals found in the brain;
  • A defect in the power plant of the cell, called mitochondria, where energy is produced;
  • Normal metabolism in the brain that produces toxic compounds called free radicals; and
  • Natural chemical substances found in the human body that may protect against cell death.
Several HD studies are aimed at understanding losses of nerve cells that transmit and receive information. Nerve cells in the inner brain area called the striatum are classified both by their size (large, medium, or small) and appearance (spiny or aspiny).
The hallmark of HD, scientist are learning, is selective degeneration of medium-sized spiny nerve cells in the striatum. Studies also suggest that losses of certain types of nerve cells and receptors are responsible for the different symptoms and stages of HD.

Huntingtons Disease, Current Research continued

Imaging technologies allow investigators to view changes in the volume and structures of the brain and to pinpoint when these changes occur in HD.

Animal Models for HD

As more is learned about cellular degeneration in HD, investigators hope to reproduce these changes in animal models and to find a way to correct or halt the process of nerve cell death. Such models also provide a means to test the safety of new classes of drugs in nonhuman animals, including primates.

For example, the altered human HD gene is transferred into mouse embryos so that the animals will develop the anatomical and biological characteristics of HD.

Fetal Tissue Research

Scientists are exploring the possibility of replacing tissue that has degenerated with implants of fresh, fetal tissue, taken at the very early stages of development. Extensive animal studies will be required to learn if this technique could be of value in humans with HD.

Clinical Studies of Patients

Clinical studies of patients are in progress to develop new drugs or other treatments to halt the disease's progression. Examples of investigations, using both asymptomatic and symptomatic individuals, include:

Genetic studies on the age of disease onset, inheritance patterns, and markers found within families.

Further genetic studies may shed additional light on how HD is passed from generation to generation.

Studies of thinking, intelligence, and movement.

Studies of abnormal eye movements, and tests of patients' skills in a number of learning, memory, neuro-psychological, and motor tasks may serve to identify when the various symptoms of HD appear and to characterize their range and severity.

Clinical trials of drugs.

Classes of drugs being tested for the treatment of HD in patients include those that control symptoms, slow the rate of disease progression, and those that might correct or replace chemical imbalances in the brain that contribute to the develop-ment and progression of HD.


A specialized imaging technique, positron emission tomography (PET), is being used   to learn how the gene affects the chemical systems of the body. PET visualizes metabolic or chemical abnormalities of tissue in the body. Investigators conducting HD research are also using PET to charac-terize nerve cells that have died and chemicals that are depleted in parts of the brain that are affected by HD.

Like PET, a form of magnetic resonance imaging (MRI) called functional MRI can measure increases or decreases in certain brain chemicals thought to play a key role in HD. Functional MRI studies are also helping investigators understand how HD kills nerve cells in different regions of the brain.




This report is based on information from the National Institutes of Health (NIH).