The foundation was involved in the recruitment of more than 100 scientists in the US-Venezuela Huntingtons Disease Collaborative Project, which over a 10-year period from 1979, worked to locate the genetic cause. This was achieved in 1983 when a causal gene was approximately located, and in 1993, the gene was precisely located at chromosome 4 (4p16.3). The study had focused on the populations of two isolated Venezuelan villages, Barranquitas and Lagunetas, where there was an unusually high prevalence of HD, and involved over 18,000 people, mostly from a single extended family, and resulted in making HD the first autosomal disease locus found using genetic linkage analysis. Among other innovations, the project developed DNA-marking methods which were an important step in making the Human Genome Project possible.In the same time, key discoveries concerning the mechanisms of the disorder were being made, including the findings by Anita Hardings research group on the effects of the genes length.Modelling the disease in various types of animals, such as the transgenic mouse developed in 1996, enabled larger-scale experiments. As these animals have faster metabolisms and much shorter lifespans than humans results from experiments are received sooner, speeding research. The 1997 discovery that mHtt fragments misfold led to the discovery of the nuclear inclusions they cause.
As mHtt (and many other protein aggregates) are degraded by autophagy, increasing the rate of autophagy has the potential to reduce levels of mHtt and thereby ameliorate disease. Pharmacological and genetic inducers of autophagy have been tested in a variety of Huntingtons disease models; many have been shown to reduce mHtt levels and decrease toxicity. Improving cell survival
Among the approaches aimed at improving cell survival in the presence of mutant huntingtin are correction of transcriptional regulation using histone deacetylase inhibitors, modulating aggregation of huntingtin, improving metabolism and mitochondrial function and restoring function of synapses. Neuronal replacement
Stem-cell therapy is used to replace damaged neurons by transplantation of stem cells into affected regions of the brain. Experiments in animal models (rats and mice only) have yielded positive results.Whatever their future therapeutic potential, stem cells are already a valuable tool for studying Huntingtons disease in the laboratory. Clinical trials
In 2020 there were 197 clinical trials related to varied therapies and biomarkers for Huntingtons disease listed as either underway, recruiting or newly completed. Compounds trialled, that have failed to prevent or slow the progression of Huntingtons disease include remacemide, coenzyme Q10, riluzole, creatine, minocycline, ethyl-EPA, phenylbutyrate and dimebon. See also
Medicine portal

References
External links

Huntingtons disease at Curlie
HOPES project – Stanford Universitys HD information project
HDBuzz – HD research news written by scientists in plain language
HD Drug Works – news about current treatments and planned trials