What is it about?
By using OBD's EpiSwitch platform, we were able to identify changes in the genomic structure of the disease causing locus (HTT) that tracked with with onset of clinical symptoms.
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Why is it important?
There is currently a shortage of reliable, non-invasive molecular marker of disease progression in Huntington's disease. This approach offers the first proof of concept that a simple measurement done on a small volume of blood (a few drops) can shed insight into disease progression and offers the potential to be used in clinical trials for new HD therapeutics.
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This page is a summary of: Genomic architecture differences at the HTT locus underlie symptomatic and pre-symptomatic cases of Huntington’s disease., F1000Research, November 2018, Faculty of 1000, Ltd.,
DOI: 10.12688/f1000research.15828.1.
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