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) since 2002. 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 neurological diseases.

Selected Publications


  1. Southwell AL, Skotte NH, Villanueva EB, Østergaard ME, Gu X, Kordasiewicz HB, Kay C, Cheung D, Xie Y, Waltl S, Dal Cengio L, Findlay-Black H, Doty CN, Petoukhov E, Iworima D, Slama R, Ooi J, Pouladi MA, Yang WX, Swayze EE, Seth PP, Hayden MR. (2017) A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles. Hum Mol Genet. 26(6):1115-1132 PMID: 28104789
  2. Southwell AL*, Smith A, Kay C, Sepers M, Villanueva EB, Parsons MP, Xie YY, Anderson L, Felczak B, Waltl S, Ko S, Cheung D, Dal Cengio L, Slama R, Petoukhov E, Raymond LA, Hayden MR*. (2016) An enhanced Q175 knock-in mouse model of Huntington disease with higher mutant huntingtin levels and accelerated disease phenotypes. Hum Mol Genet. 25(17):3654-3675. PMID: 27378694
  3. Kay C, Collins JA, Skotte NH, Southwell AL, Warby SC, Caron NS, Doty CN, Nguyen B, Griguoli A, Ross CJ, Squitieri F, Hayden MR. (2015) Huntingtin Haplotypes Provide Prioritized Target Panels for Allele-Specific Silencing in Huntington Disease Patients of European Ancestry. Mol Ther. 23(11):1759-1771. PMID:26201449
  4. Southwell AL*, Smith SEP*, Davis TR, Villanueva EB, Caron NS, Xie Y, Collins JA, Sturrock A, Leavitt BR, Schrum AG, Hayden MR. (2015) Ultrasensitive measurement of huntingtin protein in cerebrospinal fluid demonstrates increase with Huntington disease stage and decrease following brain huntingtin suppression. Sci Rep. 5:12166. PMID:26174131
  5. Mattis VB, Tom C, Saeedian J, Østergaard M, Southwell AL, Doty CN, Ornelas L, Sahabian A, Lenaeus L, Mandefro B, Sareen D, Bard J, Arjomand J, Hayden MR, Svendsen CN. (2015) HD iPSC-derived neural progenitors accumulate in culture and are susceptible to BDNF-withdrawal due to glutamate toxicity. Hum Mol Genet. 24(11):3257-3271. PMID:25740845
  6. Østergaard M, Thomas G, Koller E, Southwell AL, Hayden MR, Seth PP (2015) Biophysical and biological characterization of hairpin and molecular beacon RNase H active antisense oligonucleotides. ACS Chem. Biol. 10(5):1227-1233. PMID:25654188
  7. Skotte NH, Southwell AL, Østergaard M, Carroll JB, Warby SS, Doty CN, Petoukhov E, Vaid K, Kordasiewicz H, Watt AT, Freier SM, Hung G, Seth PP, C. Bennett CF, Swayze EE, Hayden MR. (2014) Allele-specific suppression of mutant huntingtin using anti-sense oligonucleotides: providing a therapeutic option for all Huntington disease patients. PLoS ONE. 9(9):e107434. PMID:25207939
  8. Southwell AL, Skotte NH, Kordasiewicz H, Østergaard M, Watt AT, Carroll JB, Doty CN, Villanueva EB, Petoukhov E, Vaid K, Xie Y, Freier SM, Swayze EE, Seth PP, Bennett CF, Hayden MR. (2014) In vivo evaluation of candidate allele-specific mutant huntingtin gene silencing antisense oligonucleotide drugs. Mol Ther.  22(12):2093-2106. PMID:25101598 [Featured on the cover
  9. Kolodziejczyk K, Parsons MP, Southwell AL, Hayden MR, Raymond LA. (2014) Striatal synaptic dysfunction and hippocampal plasticity deficits in the Hu97/18 mouse model of Huntington disease. PLoS ONE. 9(4):e94562. PMID:24728353
  10. Østergaard M, Southwell AL, Kordasiewicz H, Watt A, Skotte N, Doty C, Vaid K, Villanueva E, Swayze E, Bennett CF, Hayden M, Seth PP. (2013) Rational design of antisense oligonucleotides targeting single nucleotide polymorphisms for potent and allele selective suppression of mutant huntingtin in the CNS. Nucleic Acids Res. 1;41(21):9634-50. PMID:23963702
  11. Southwell AL, Warby SC, Carroll JB, Doty CN, Skotte NH, Zhang W, Villanueva EB, Kovalik V, Xie Y, Pouladi MA, Collins JA, Yang XW, Franciosi SF, Hayden MR. (2013) A fully humanized transgenic mouse model of Huntington disease. Hum Mol Genet. 1;22(1):18-34. PMID:23001568[In Brief:  Genetics: Fully humanized mouse model of Huntington disease. Nature Rev Neurol 8, 594 (2012)/qwe456]
  12. Carroll JB, Warby SC, Southwell AL, Doty CN, Greenlee S, Skotte N, Hung G, Bennett CF, Freier SM, Hayden MR. (2011) Potent and selective antisense oligonucleotides targeting single nucleotide polymorphisms in the Huntington disease gene. Mol Ther. 19(12):2178-85. PMID:21971427
  13. Southwell AL, Bugg CW, Kaltenbach LS, Dunn D, Butland S, Weiss A, Paganetti P, Lo DC, Patterson PH. (2011) Perturbations with intrabodies reveal that calpain cleavage is required for degradation of huntingtin exon 1. PLoS One 6(1):e16676. PMID:21304966
  14. Southwell AL, Ko J, Patterson PH. (2009) Intrabody gene therapy ameliorates motor, cognitive and neuropathological symptoms in multiple mouse models of Huntington’s disease. J Neurosci. 29:13589-13602. PMID:19864571 [Reviewed in: March 2010 European Huntington’s Disease Network News]
  15. Southwell AL, Khoshnan A, Dunn DE, Bugg CW, Lo DC, Patterson PH. (2008) This week in the Journal: Intrabodies binding the proline-rich domains of mutant huntingtin increase its turnover and reduce neurotoxicity. J Neurosci. 28:9013-9020. PMID:18768695 [This Week in the Journal and Reviewed in: June 2009 European Huntington’s Disease Network News]