It was the Collaborative Huntington's Disease Project in Venezuela that led to the identification of a ‘genetic marker’ for Huntington’s in 1983. That landmark finding demonstrated - for the first time - that the then newly developed “DNA Markers” could be successfully used to map human genes.
This major breakthrough set the stage for identifying the gene itself, and paved the way for a host of efforts targeted at other diseases.
When the Huntington's Disease gene was identified in 1993, it was one of a newly identified class of disease genes whose signature is an excess of trinucleotide repeats. Other examples include:
- Fragile X, (the most common form of mental retardation)
- Myotonic Dystrophy
- Kennedy's Disease (spinobulbar muscular atrophy)
- Haw River Syndrome
- Hereditary Ataxia (3 types)
- SCI1
- Machado Joseph Disease
- Friedrich's Ataxia.
Huntington's disease destroys so many different capabilities . . . intellectual, physical and emotional . . . therefore, the insights produced by Huntington’s research have been relevant to the understanding of many others, including:
- Schizophrenia
- Manic Depression
- Alzheimer's
- Lou Gehrig's Disease (amyotrophic lateral sclerosis - ALS)
- Parkinson's Disease
- Cancer
Huntington's is an ideal research environment:
- There are good records going back generations.
- There is a precisely defined risk population: we know exactly who has it, and who is going to get it. (By comparison, Parkinson's has no accurate predictive capability, and Alzheimer's is still a diagnosis of elimination).
- Families who have lived with Huntington's for generations know it well, and are anxious to participate in finding a treatment.
- This small research community is demonstrating unique, global cooperation.
These factors have brought Huntington's closest to a cure to date.
There is a school of thought confident that cracking the last piece of the Huntington’s puzzle will point the way for teams of researchers around the world working on these and other ailments.
Laura’s Hope is helping to add the extra bit of weight needed to topple this first domino.
