Julianna Maisano
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Neuroscience Across the Curriculum
1 December 2015
Douglas MacDonald’s Lecture, “From the Gene to the Clinic: Developing Therapies to Modify the Course of Huntington’s Disease”
On Thursday, November 19, 2015, Trinity College Alumnus Dr. Douglas MacDonald ’89, concluded the Science for the Greater Good lecture series with his lecture entitled, “From the Gene to the Clinic: Developing Therapies to Modify the Course of Huntington’s Disease”. As the Director of Drug Discovery at CHDI Foundation, Dr. MacDonald and his team are eager to develop drugs that will slow the progression of Huntington’s disease and to provide meaningful clinical benefits to Huntington’s patients as quickly as possible (CHDI Foundation, 2015).
Huntington’s disease can be defined as a neurodegenerative disease that impacts everyday muscle movements. The disease manifests from genetics and is found to run rampant within a family. An individual who suffers from Huntington’s disease typically loses brain matter around the brain’s lateral ventricles. While brain scans make it seem as if the ventricles are enlarged, the brain matter surrounding the ventricles are actually shrinking year after year. Symptoms include but are not limited to involuntary movements, difficulty walking, and slurred speech. Subsequently, many Huntington’s disease patients also experience other comorbidities such as psychiatric disorders (depression or mood swings) and cognitive disorders (slow processing).
It is known that Huntington’s disease is able to be treated in the pre-manifest stage. An autosomal dominant disease, scientist’s use genetics to the to explore the causes of and treatments for the disease. To do this, Dr. MacDonald analyzed the CAG codon within one genome to look for molecular codon mutations. Additionally, the team use biomarkers to identify and validate causes of Huntington’s disease by through PET imaging, quantitative EEGs, and by analyzing the cerebrospinal fluid of patients. Dr. MacDonald’s strategy to develop a treatment for the disease includes lowering the levels of huntingtin (HTT) gene within the brain and by modulating the key mechanisms of huntingtin via mouse models.
Ultimately, Dr. MacDonald and his team are eager to look for different ways to lower huntingtin by targeting specific known neural structures of the disease, suppressing the gene, treating patients, and intervening with the overall downfalls of the disease. Dr. MacDonald and the CHDI Foundation believe that a treatment will be found for Huntington’s disease patients, however, a lot of collaboration will be needed on order to do so.
References
CHDI Foundation. (2015). Retrieved, from http://chdifoundation.org/about-us/
MacDonald, D. (2015, November 19). From the Gene to the Clinic: Developing Therapies to
Modify the Course of Huntington’s Disease. Lecture presented at Science for the Greater
Good Lecture Series.