In the August 8 issue of Cell, two scientific papers report a crucial
breakthrough in the quest for a cure for Huntington's disease.
In work funded by the HEREDITARY DISEASE FOUNDATION of Santa Monica,
California, Dr. Gillian Bates, Medical and Molecular Genetics, Guy's
Hospital, London, Dr. Stephen Davies, Department of Anatomy and
Developmental Biology, University College London, Dr. Hans Lehrach and Dr.
Erich Wanker, Max Planck Institute for Molecular Genetics, Berlin, and
their colleagues report on the identification of pathological lesions in
the brain cells of mice into which Dr. Bates and her colleagues have
introduced the abnormal fragment of the Huntington's disease gene.
The landmark 1993 discovery of the Huntington's disease gene did not
immediately provide a pathway to develop a therapy which could cure or
prevent Huntington's disease. The cover article and a related article in
Cell for the first time describe cellular and biochemical pathology which
can be used as the basis for discovery of drugs to prevent pathology in
individuals at risk for Huntington's disease or in the early stages of the
disease.
Huntington's disease is caused by the genetically programmed death of
neurons in a central region of the brain known as the basal ganglia. In the
new studies, the authors show that the pathological form of the
Huntington's disease protein forms dense aggregates in the nuclei of brain
cells of experimental mice which strikingly resembles structures seen in
nuclei of brain cells from people with Huntington's disease. Furthermore,
they have developed a biochemical approach which allows them to recreate
the formation of the aggregated pathological Huntington's protein in the
test tube. The implications of these findings for the development of a
rational drug therapy for HD are strong. Screening assays for drugs which
prevent these overt signs of pathology now become feasible.
Dr. Gillian Bates is twice the winner of the Lieberman Award -- the most
prestigious award of the Hereditary Disease Foundation -- and is also on
our Scientific Advisory Board.
The Hereditary Disease Foundation is also pleased to announce a new Cure
Huntington's Disease Initiative with an anonymous gift to launch the
program. We have hired Dr. Ethan Signer, Professor Emeritus of Biology of
the Massachusetts Institute of Technology, to head the effort.
