The Hereditary Disease Foundation has named Steven Finkbeiner, MD, PhD, an assistant investigator at the Gladstone Institute of Neurological Disease and assistant professor of neurology and physiology at University of California, San Francisco (UCSF), as the recipient of its highly esteemed Lieberman Award.
The annual honor, featuring $150,000 in research funding over two years, is designed to encourage innovative proposals leading to the treatment and cure of Huntington's disease, as well as to honor prior work in the field. It is widely considered to be among the most prestigious awards honoring breakthrough research into the devastating illness.
Finkbeiner was recognized for resolving a mystery associated with Huntington's disease, using a robotic microscope that he custom-designed to allow the tracking of changes in cells, including those associated with neurodegeneration, over long lengths of time. As reported in a Nature cover story last fall (October 14, 2004), Finkbeiner and his team determined that abnormal deposits of mutant huntingtin protein, which appear in the brains of all Huntington's disease patients, are not the cause of neuronal death, but rather are a beneficial coping response on the part of distressed cells. The finding suggests that mutant huntingtin protein inflicts its damage in some form other than as abnormal deposits.
The new funding will enable Finkbeiner and his team to build on these findings. He will use the microscope to elucidate which forms of mutant huntingtin are most poisonous. Identifying these toxic forms could reveal how mutant huntingtin causes degeneration, and could lead to specific therapies that block it.
"Dr. Finkbeiner is an immensely imaginative scientist who not only is asking the right questions but also is incredibly inventive in creating software and hardware to answer them," says Hereditary Disease Foundation President Nancy Wexler, a Columbia University Medical Center neuropsychologist who studies Huntington's disease. "He's definitively answered a question that had been debated for years by creating a brilliant microscopy system, giving life sciences researchers the ability to watch specific cells over time in a user-friendly, high-throughput way. The extraordinary thing about Steve -- something for which all HD families are truly grateful -- is that he's totally committed to curing Huntington's disease."
Wexler, herself, is at risk for the disease, which usually strikes in mid-life; her mother, grandfather and three uncles died of it. The Hereditary Disease Foundation (HDF), which focuses on Huntington's disease, was founded in 1968 by Wexler's father when his wife was diagnosed with the illness. The organization supports research, including the development of mouse models, preclinical testing, studies of protein-protein interactions, strategies for gene therapy, intercellular signaling in striatal neurons and the development and planning of clinical trials. It has two offices, one in Santa Monica, California, and another in New York. Further details are available at www.hdfoundation.org.
Huntington's disease is a fatal neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline. While it usually strikes in mid-life, it can also attack children and the elderly. There is no treatment to halt its progression, which leads to death after 10 to 25 years. In the United States, the prevalence of the disease is about 10 cases per 100,000 people, or about 35,000 people in all, with another 150,000 individuals at risk. Each child of a parent with HD has a one in two chance of inheriting it. It has complete genetic penetrance, so that if someone inherits the HD gene, he or she will die of it.
The Lieberman Award was created, and is funded, by long-time Hereditary Disease Foundation trustee Harry Lieberman to catalyze new efforts following the HDF-supported discovery in 1993 of the Huntington's disease gene. The list of prior winners includes Huntington's disease research luminaries Gillian Bates, PhD, Guy's Hospital, London; David Lovinger, PhD, Vanderbilt University; Russell Margolis, MD, Johns Hopkins University; Lynn Raymond, PhD, University of British Columbia; Leslie Thompson, PhD, University of California, Irvine; and Jacqueline White, PhD, Massachusetts General Hospital.
Source: Eurekalert & othersLast reviewed: By John M. Grohol, Psy.D. on 21 Feb 2009
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