Hereditary Disease Foundation
"Fast Paths to a Cure"
January 8-9, 2000
Santa Monica, CA
Report prepared by Marina Chicurel
Abstract
As new findings expand our knowledge of Huntington's disease (HD), a
growing number of potential research paths unfold before us. The
challenge now lies in selecting those that promise to yield the most
benefits, most quickly. Patients suffering from the devastating
symptoms of HD and those whose genes foreshadow the onset of the
illness -- and the potential of passing it on to their children--
provide a compelling motivation to search for expeditious paths to a
cure. At the same time, approaches that may prove rewarding in the
long term should not be sacrificed in the name of haste.
Participants at the Hereditary Disease Foundation's workshop "Fast
Paths to a Cure" discussed how best to strike a balance between
these goals.
Although still in the early stages of development, several compounds and
procedures emerged as potential therapeutic agents. Protease inhibitors,
anti-inflammatory compounds, transcriptional modulators, and regulators of
energy metabolism were identified as promising candidates. And given the
chronic nature of HD, gene and stem cell therapies were recognized as
particularly promising options. Most participants agreed, however, that the
ultimate "cure" for HD would probably involve a combination of therapies.
The extent to which understanding the mechanisms underlying HD will be
required for developing effective therapies was controversial, but all
agreed that basic research would be key in the long-term. Studies of
huntingtin's interactions with regulators of gene expression yielded new
insights into how huntingtin may disrupt cell function. And
electrophysiological and molecular studies revealed early markers of
disease, suggesting primary events that unleash HD's cascade of pathological
changes. To extend these mechanistic studies, some participants favored
focusing on unique features of HD -- such as the vulnerability of the medium
spiny cell -- while others advocated looking for common themes --such as the
similarities shared by all polyglutamine diseases. A tone of cautious
optimism pervaded the workshop. The time seems ripe for the emergence of a
cure for HD, but much work lies ahead. Through stimulating discussions,
participants compiled a set of strategies and tools that promise to advance
the mechanistic understanding of HD, lead to the development of new
therapies, and aid in the design of effective clinical trials.
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