Huntington's disease: advocacy driving science

Area of Science:

• Neurodegenerative Disorders
• Genetics
• Molecular Biology

Background:

• Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder.
• The Hereditary Disease Foundation (HDF) was established to fund research for HD treatments and cures.
• The author and their sister have a 50% risk of inheriting HD.

Discussion:

• The HDF has fostered scientific collaboration through workshops and funding.
• The HDF supported the Huntington's Disease Collaborative Research Group in a decade-long gene search.
• Key breakthroughs include identifying a DNA marker for the HD gene and isolating the gene itself.

Key Insights:

• The discovery of the HD gene marker in 1983 was a significant early success.
• The isolation of the HD gene a decade later was a major advancement.
• These discoveries contributed to the initiation of the Human Genome Project.

Outlook:

• The HDF played a role in creating the first mouse model for HD.
• Current research focuses on innovative approaches like gene silencing for HD.
• The HDF continues to be an integral partner in advancing HD research and developing cures.