Our Motivation
Huntington’s Disease (HD) is an autosomal dominant genetic disorder, meaning that if one allele out of two carries the HTT mutation the HD gene will produce the faulty protein of Huntingtin. Therefore, the children of an individual suffering from HD will have a 50/50 chance of carrying the faulty gene if they do not express it themselves. According to the Huntington’s Disease Society of America, the “quintessential family disease” and the ability of this disease to wreak such devastating and overarching damage on an individual and all those around them are one of the root reasons our team has chosen to tackle HD. For instance, HD is adult-onset (30s to 50s) and many individuals go about their lives and form families without the knowledge of the storm looming on the horizon. At the time of their diagnosis, their children will be revealed to be at risk of inheriting the disease. HD robs a patient of their life, eventually leaving them physically, cognitively, and behaviorally inept to continue their daily tasks and responsibilities. Although HD is classified as a rare disorder, the tragic and frightful effects it has upon patients, carriers, and families call for a resolution to be developed in the near future.
Abstract
Huntington’s disease (HD) is an autosomal dominant genetic disorder that causes the breakdown of nerve cells in the brain and currently has no cure, which is why we’re aiming to find one! HD, which is usually adult-onset, is particularly devastating because it includes symptoms such as amnesia, involuntary movements, and physical incoordination, giving a patient a lifespan of only ten years after onset. The primary cause of this disease is a trinucleotide repeat of CAG in the huntingtin gene, where a repeat of 40 or more can cause the manifestation of the disease. Our goal is to create a synthetic RNA strand displacement technology that consists of the corrected RNA strand and a “guide” strand. The guide strand will bond with endogenous, faulty messenger RNA and release the corrected RNA strand for proper protein synthesis of the huntingtin protein, while disposing of the repeating CAG sequence. Ultimately, once such technologies are developed to overcome endocytosis and blood brain barrier traversal, an injectable cure can be produced.
