Precision Genetic Therapy for Huntington Disease

Amber Southwell, PhD
University of Central Florida
Learning Outcomes:

  • Describe how population genetics has provided personalized therapeutic targets for Huntington disease

  • Define antisense oligonucleotide gene silencing mechanisms

  • Explain biomarker discovery for clinical translation of experimental therapies

  • Dr. Amber L. Southwell, Assistant Professor, Burnett School of Biomedical Sciences, Division of Neuroscience, has been working in preclinical therapy development for Huntington disease (HD) for 15 years. In 2009 she earned her PhD at the California Institute of Technology working with Dr. Paul Patterson to develop an intrabody gene therapy for HD. From 2009-2016, she did postdoctoral research at the University of British Columbia with Dr. Michael Hayden where she developed several novel mouse models of HD, a selective mutant huntingtin gene silencing therapy, and a CSF biomarker for brain huntingtin. She began her laboratory research group at UCF in January 2017, where she continues these studies while also applying her successful strategies for HD to other inherited neurodegenerative diseases.