Since the discovery of the genetic marker for the disease in 1983, our understanding of the causes and mechanisms of Huntington's disease (HD) has grown at a dramatic pace. Though the therapies to treat the disease lag behind these laboratory discoveries, disease altering interventions are moving closer to the clinic. In the inaugural issue of the Journal of Huntington's Disease Alice Wexler recounts important milestones along the journey towards a treatment or cure for the disease. She is a PhD, an authority on the history of Huntington's disease, author, and research scholar with the UCLA Center for the Study of Women.
"When the abnormal gene that causes HD was identified in 1993, many of us in HD families imagined that a cure - or at least an effective treatment - was close at hand," says Dr. Wexler. "That dream has not yet been realized. But if the history of HD can provide clues for the future, it suggests that change doesn't always happen gradually. It can also happen swiftly. And that, I believe, is a great source for hope."
Although clinical accounts of HD date back to the mid-19th century, as late as the 1960s few doctors knew anything about it. Those who did could offer no effective treatments and families with the illness tried hard to keep it hidden. "All of a sudden, in the 1960s, this began to change," says Dr. Wexler. Grassroots advocacy by HD families, and the efforts of a small international network of neurologists who formed international collaborations to study the disease, began to have an impact.
The genetic marker for HD was discovered in 1983, and HD research intensified. It reached a dramatic turning point in 1993, when the discovery of the genetic abnormality that causes HD made possible an array of new models and experimental approaches. Since then, scientists have created a variety of new animal and cell models, identified potential genetic modifiers, and illuminated many aspects of neuronal dysfunction. They are also testing methods of gene silencing and other novel therapeutic strategies in a variety of animal models.
"For families struggling daily with HD, effective intervention can't come soon enough," says Dr. Wexler. "But the volume of research has increased tremendously in the past decade. Disease altering interventions are moving closer to the clinic. The launch of the Journal of Huntington's Disease
provides a welcome new resource in our campaign to heal a formidable disease."