{"id":4034,"date":"2025-10-06T13:51:57","date_gmt":"2025-10-06T00:51:57","guid":{"rendered":"https:\/\/blogs.otago.ac.nz\/thesheet\/?page_id=4034"},"modified":"2025-10-06T14:52:15","modified_gmt":"2025-10-06T01:52:15","slug":"testing-gene-therapy-for-batten-disease-in-sheep","status":"publish","type":"page","link":"https:\/\/blogs.otago.ac.nz\/thesheet\/school-resources\/batten-disease\/testing-gene-therapy-for-batten-disease-in-sheep\/","title":{"rendered":"Testing gene therapy for Batten disease in sheep"},"content":{"rendered":"\n

Testing gene therapy for Batten disease in sheep<\/h2>\n\n\n\n

Dr Stephanie Hughes<\/a> and her colleagues in the Otago Department of Biochemistry have been developing special viruses as a gene therapy treatment for Batten disease. <\/p>\n\n\n\n

\"Three<\/a>
Dr Stephanie Hughes (left) and students in her research lab. From left: Dr Stephanie Hughes and students Stephanie Mercer, Sophie Mathison and Oluwatobi Eboda in the Neurodegenerative and Lysosomal Disease Lab.<\/figcaption><\/figure>\n\n\n\n

To correct for the mutation in the CLN5 gene of people with Batten disease, the normal gene needs to be injected into thousands or even millions of cells where it is needed.<\/p>\n\n\n\n

If you simply insert a gene directly into a cell, it usually does not function. Viruses naturally inject their genetic material into cells in a way that allows the genes to help make proteins.<\/p>\n\n\n\n

Read more about viruses on the Science Learning Hub.<\/a><\/p>\n\n\n\n

The viruses used in gene therapy are modified so they can’t cause disease.<\/p>\n\n\n\n

Three types of viruses can be used: retrovirus, adenovirus, or adeno-associated virus (most commonly used). All of these viruses introduce their DNA into the nucleus of a cell; retroviruses integrate their DNA into one of the cell’s chromosomes, whereas adenoviruses and adeno-associated viruses do not.<\/p>\n\n\n\n

\n
\"Image<\/a>
Electron micrograph of retroviruses (GrahamColm \/ English Wikipedia \/ CC BY 3.0<\/a>).<\/small><\/figcaption><\/figure>\n\n\n\n
\"Image<\/a>
Electron micrograph of adenoviruses (PhD Dre \/ English Wikipedia \/ GFDL<\/a> or CC BY-SA 3.0<\/a> \/ via Wikimedia Commons).<\/small><\/figcaption><\/figure>\n\n\n\n
\"Image<\/a>
Electron micrograph of adeno-associated viruses (Kenneth Raj Research Group, formerly of the NIMR, UK; MicrobeWiki<\/a>).<\/small><\/figcaption><\/figure>\n<\/div>\n\n\n\n

Dr Hughes has been using lentivirus, a type of retrovirus, and adeno-associated virus  to create and test gene therapy for treating Batten disease in sheep and mice.<\/p>\n\n\n\n

Before the gene therapy can be tested on human patients, a lot of research needs to be done in the lab.<\/p>\n\n\n\n

There are three main parts to this research:<\/p>\n\n\n\n

    \n
  1. Make the gene therapy virus.<\/li>\n\n\n\n
  2. Test the gene therapy on cells cultured in a dish.<\/li>\n\n\n\n
  3. Test the gene therapy in an animal model, in this case on sheep who naturally already have the Batten disease mutation.<\/li>\n<\/ol>\n\n\n\n

    1) Make the gene therapy virus<\/h2>\n\n\n\n

    To make the virus, the researchers need a DNA plasmid (a circle of DNA) which contains the correct CLN5 gene, and cells cultured (grown) in a dish inside an incubator. The cells sit in media, which is a liquid containing the nutrients they need to stay alive.<\/p>\n\n\n\n

    The researchers make the plasmid using:<\/p>\n\n\n\n