Amber Southwell

Dr. Amber Southwell’s research focuses on the development of therapeutics for Huntington’s disease (HD). HD is an inherited, fatal neurodegenerative disorder characterized by involuntary movement, psychiatric disturbance, and cognitive decline. Despite the simple genetic nature of HD and the concurrent ability to identify mutation carriers decades before disease onset, there is currently no therapy available that can delay onset or slow progression. Southwell is using antisense oligonucleotides targeted to single nucleotide polymorphisms associated with the HD mutation as a strategy for selectively silencing expression of the HD causative mutant gene.

Recent Publications

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 S, Hayden MR. A fully humanized transgenic mouse model of Huntington disease. Hum Mol Genet. 2013 Jan 1;22(1):18-34. doi: 10.1093/hmg/dds397. Epub 2012 Sep 21. (PubMed abstract)

Southwell AL, Skotte NH, Bennett CF, Hayden MR. Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases. Trends Mol Med. 2012 Nov;18(11):634-43. doi: 10.1016/j.molmed.2012.09.001. Epub 2012 Sep 28. (PubMed abstract)

Carroll JB, Warby SC, Southwell AL, Doty CN, Greenlee S, Skotte N, Hung G, Bennett CF, Freier SM, Hayden MR. Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin. Mol Ther. 2011 Dec;19(12):2178-85. doi: 10.1038/mt.2011.201. Epub 2011 Oct 4. (PubMed abstract)

Pouladi MA, Stanek LM, Xie Y, Franciosi S, Southwell AL, Deng Y, Butland S, Zhang W, Cheng SH, Shihabuddin LS, Hayden MR. Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice. Hum Mol Genet. 2012 May 15;21(10):2219-32. doi: 10.1093/hmg/dds037. Epub 2012 Feb 9. (PubMed abstract)