Scientists at the Gladstone Institutes and an international team of researchers have generated a human model of Huntington's disease-directly from the skin cells of patients with the disease.
For years, scientists have studied Huntington's disease primarily in post-mortem brain tissue or laboratory animals modified to mimic the disease. Today, in Cell Stem Cell, the international team shows how they developed a human model of Huntington's disease, which causes a diverse range of neurological impairments. The new model should help scientists better understand the development of Huntington's-and provide better ways to identify and screen potential therapeutics for this devastating disease.
This new model comes at a time of concentrated federal efforts to accelerate solutions for diseases-including a number of debilitating conditions that touch only small percentages of the population. Last year, the National Institutes of Health consolidated its efforts to attack rare diseases under the new National Center for Translational Sciences.
Huntington's is such a rare disease, although it is the most common inherited neurodegenerative disorder. It afflicts approximately 30,000 people in the United States-with another 75,000 people carrying the gene that will eventually lead to it. Caused by a mutation in the gene for a protein called huntingtin, the disease damages brain cells so that people with Huntington's progressively lose their ability to walk, talk, think and reason.
"An advantage of this human model is that we now have the ability to identify changes in brain cells over time-during the degeneration process and at specific stages of brain-cell development," said Gladstone Senior Investigator Steve Finkbeiner, MD, PhD. "We hope this model will help us more readily uncover relevant factors that contribute to Huntington's disease and especially to find successful therapeutic approaches."