Altman and Fu sat down with Gusella and MacDonald to discuss their passion for investigating HD. What’s special about HD research? Both stated that they have the opportunity to do a great service for those with HD and, at the same time, learn about the biology behind the disease.
“HD, in particular, gets scientists interested,” said MacDonald. “What makes [HD research] fun is the discovery part, being in the middle of nowhere and finding new biology.” Take, for example, the mutant huntingtin protein: “We have no clue what it does, but we can connect it with old things and see things that are brand-new.” When studying the biology behind non-genetic (traditional) disease, researchers learn from what they already know, which is “not great for discovery,” according to MacDonald. Conversely, when studying HD, researchers do not know what they are looking for, which sets the stage for some amazing new findings.
“What’s disturbing is that the more you know about how something works, the less interesting it is,” Gusella said, pointing out a negative aspect of scientific discovery. “But working on HD is different”, MacDonald asserted. Unlike other degenerative disorders of the nervous system like Alzheimer’s and Parkinson’s disease, whose “ etiologies are myriad” (meaning that there is a wide range of possible causes), everyone who develops HD has the same mutation. The hypothesis that things will be found that counteract the effects of the single mutation in the single gene that triggers the disease in everyone is exciting to work on because it still poses new and interesting questions and challenges for the scientists who work on it. (For a comparison of Alzheimer’s, Parkinson’s, and HD, please click here.)
Although MacDonald, Gusella, and their colleagues are interested in many aspects of the Huntington gene and related proteins, the overarching purpose of their work is finding a way to treat HD sufferers. “The ultimate goal of our research is a treatment, not understanding HD completely,” said Gusella. MacDonald added, “If you know how the disease starts, there will be a solution.” However, Gusella believes that an actual cure will not be possible until the HD allele vanishes from the population - something that is not likely anytime in the foreseeable future (he defines “cure” as the disappearance of the HD allele from the gene pool). (For more information on the distinction between a treatment and a cure, please click here.)
Last Modified: 05/22/2009
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