![\"\"](\"https:\/\/dj9jqhxgw9833.cloudfront.net\/uploads\/sites\/42\/2022\/10\/2cb87590-6232-49c9-98e8-bed4ab0da98d.jpg\")
WHAT IS BATTEN DISEASE? <\/h5>\n\n
Batten disease is a term for a group of diseases which are also known as neuronal ceroid lipofuscinoses, or lysosomal storage disorders. These are conditions where patients carry mutations or faults in genes that ultimately end up affecting the function of the lysosomes, which are the cells\u2019 waste disposal and recycling system. Lysosomal storage disorders are generally referred to as the most common form of dementia in childhood. <\/span><\/p>\n\n There are 14 different forms of the disease that we\u2019re aware of. They are what we call neurodegenerative diseases and affect the function of the nervous system. It\u2019s a rare disease. In the UK, there are maybe 100 or 150 patients at the moment. But obviously that doesn\u2019t make it any less impactful for those people who have it and their carers. <\/p>\n\n Not necessarily. As I said, there are 14 different forms and they all affect the function of the lysosomes, this waste disposal and recycling system in the cell. <\/span><\/p>\n\n The majority of the presentations are similar, with the main difference being the time of onset \u2013 the age at which they start to get sick \u2013 and how long that goes on for before they die prematurely. <\/p>\n\n \u201cThis is a proof of principle that is worth following up and is likely to be a viable route to developing a therapy\u201d <\/span><\/em><\/strong><\/p><\/blockquote>\n\n The form of the disease that we are talking about, which is called the CLN1 form of the disease, is quite early onset. Typically, the first presentation of disease is that the kids, unfortunately, go blind. Then they\u2019ll have more core cognitive deficits, such as changes in their thought processes, or their ability to retain information or develop new memories, and their ability to interact with family members. <\/p>\n\n They develop motor changes, which means that their ability to move around and coordinate their abilities is affected. And normally they\u2019ll end up in a wheelchair quite rapidly and then lose mobility. Ultimately, most of these children will have passed away by the time they\u2019re 10 years old. <\/p>\n\n Yes. Each of the different forms of Batten disease affects a different gene that impacts on lysosome function. For this form of the disease, the gene is called CLN1. It is supposed to produce an enzyme called PPT1, and that plays a role in lysosome function. <\/span><\/p>\n\n Our collaborators in the United States already have a mouse model for this particular disease. Mice are useful for carrying out some basic biology work, but they are not much like people and that\u2019s a big problem at the moment. In general terms, we call it translation \u2013 moving something from rodent-derived therapeutics into something which is actually going to be effective in the clinic. We need an intermediate model system, if you like, to be able to show that we can effectively scale up [from small to large]. <\/p>\n\n In the nervous system of a mouse, if you put the enzyme into the fluid-filled spaces in the brain, the ventricles, the maximum distance it has to travel to get complete coverage of the brain is only two or three millimetres in any direction. If you want to do it into the brain of a child, it then has to go two centimetres in every direction. So, just because we can do it in a mouse, it doesn\u2019t necessarily mean that it\u2019s going to be effective in a human as well.<\/span><\/p>\n\n To be clear \u2013 and I think we try and stress this point \u2013 nobody wants to do large animal therapeutic research. But there\u2019s no alternative for showing that you can effectively make that transition from small-scale therapy to something that is actually going to be effective in the clinic. <\/p>\n\n Our collaborators in the States have shown that this is a viable route for essentially rescuing the disease in a mouse model. We\u2019ve managed to show that if we scale up the administration of this therapy into sheep, again into the fluid-filled spaces of the brain, and we give this therapy monthly, then we can change the progression of the disease. <\/span><\/p>\n\n It\u2019s very, very early stages. This is a proof of principle that is worth following up and is likely to be a viable route to developing a therapy. The next steps are to try to get funding to do this on a larger scale and essentially refine the therapy administration protocol, to try to answer questions like, how much enzyme do you need to give? How often do you need to give it? And where exactly should you be putting it in the first instance? <\/span><\/p>\n\n It is worth reiterating that this is far from being a therapy now. This is an effective proof of principle and it\u2019s promising, but it will be a while before anything is going to go into patients. <\/p>\n\n Thomas is a reader in molecular anatomy at the University of Edinburgh\u2019s Roslin Institute. He studies the mechanisms underpinning neuronal development and degeneration. <\/em><\/p>\n\n Scientists at Edinburgh\u2019s Roslin Institute have created sheep that carry the gene for Batten disease, a rare and fatal childhood illness for which there is currently no cure. Dr Thomas Wishart tells us more <\/p>\n","protected":false},"author":24,"featured_media":19040,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"ub_ctt_via":"","purple_page_number":"24","purple_custom_meta_purple_page_number":"24","purple_seq_number":"1","purple_custom_meta_purple_seq_number":"1","purple_source_article":"article_24-1.xml","purple_custom_meta_purple_source_article":"article_24-1.xml","purple_source_issue":"November-2022","purple_custom_meta_purple_source_issue":"November-2022","purple_external_id":"November-2022-24-1","purple_custom_meta_purple_external_id":"November-2022-24-1","purple_issue_code":"|0000089660||","purple_custom_meta_purple_issue_code":"|0000089660||","purple_android_product":"com.focus.magazine.issue384","purple_custom_meta_purple_android_product":"com.focus.magazine.issue384","purple_ios_product":"com.focus.magazine.issue384","purple_custom_meta_purple_ios_product":"com.focus.magazine.issue384","purple_web_product":"","purple_custom_meta_purple_web_product":"","purple_publication_id":"0f422ad1-c939-476d-9f82-a410052ad4c3","purple_migrated":"","kt_blocks_editor_width":"","apple_news_api_created_at":"2022-11-08T11:39:05Z","apple_news_article-theme":"","apple_news_api_id":"d74638c3-f062-4d6d-98e9-f6362ef90bab","apple_news_api_modified_at":"2022-11-09T10:13:51Z","apple_news_api_revision":"AAAAAAAAAAAAAAAAAAAAAw==","apple_news_api_share_url":"https:\/\/apple.news\/A10Y4w_BiTW2Y6fY2LvkLqw","apple_news_coverimage":0,"apple_news_coverimage_caption":"","apple_news_is_hidden":false,"apple_news_is_paid":true,"apple_news_is_preview":true,"apple_news_is_sponsored":false,"apple_news_maturity_rating":"","apple_news_pullquote":"","apple_news_pullquote_position":"","apple_news_article_theme":"","apple_news_sections":"[]"},"categories":[25],"tags":[20,15],"apple_news_notices":[],"featured_image_src":"https:\/\/c01.purpledshub.com\/uploads\/sites\/42\/2022\/10\/2cb87590-6232-49c9-98e8-bed4ab0da98d.jpg","author_info":{"display_name":"importmanagerhub@sprylab.com","author_link":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/author\/importmanagerhubsprylab-com\/"},"acf":{"readingTimeMinutes":"5","apple_news_title":""},"uagb_featured_image_src":{"full":["https:\/\/c01.purpledshub.com\/uploads\/sites\/42\/2022\/10\/2cb87590-6232-49c9-98e8-bed4ab0da98d.jpg",2048,1250,false],"thumbnail":["https:\/\/c01.purpledshub.com\/uploads\/sites\/42\/2022\/10\/2cb87590-6232-49c9-98e8-bed4ab0da98d-150x150.jpg",150,150,true],"medium":["https:\/\/c01.purpledshub.com\/uploads\/sites\/42\/2022\/10\/2cb87590-6232-49c9-98e8-bed4ab0da98d-300x183.jpg",300,183,true],"medium_large":["https:\/\/c01.purpledshub.com\/uploads\/sites\/42\/2022\/10\/2cb87590-6232-49c9-98e8-bed4ab0da98d-768x469.jpg",768,469,true],"large":["https:\/\/c01.purpledshub.com\/uploads\/sites\/42\/2022\/10\/2cb87590-6232-49c9-98e8-bed4ab0da98d-1024x625.jpg",800,488,true],"1536x1536":["https:\/\/c01.purpledshub.com\/uploads\/sites\/42\/2022\/10\/2cb87590-6232-49c9-98e8-bed4ab0da98d-1536x938.jpg",1536,938,true],"2048x2048":["https:\/\/c01.purpledshub.com\/uploads\/sites\/42\/2022\/10\/2cb87590-6232-49c9-98e8-bed4ab0da98d.jpg",2048,1250,false]},"uagb_author_info":{"display_name":"importmanagerhub@sprylab.com","author_link":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/author\/importmanagerhubsprylab-com\/"},"uagb_comment_info":0,"uagb_excerpt":"Scientists at Edinburgh\u2019s Roslin Institute have created sheep that carry the gene for Batten disease, a rare and fatal childhood illness for which there is currently no cure. Dr Thomas Wishart tells us more","_links":{"self":[{"href":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/wp-json\/wp\/v2\/posts\/19042"}],"collection":[{"href":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/wp-json\/wp\/v2\/users\/24"}],"replies":[{"embeddable":true,"href":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/wp-json\/wp\/v2\/comments?post=19042"}],"version-history":[{"count":6,"href":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/wp-json\/wp\/v2\/posts\/19042\/revisions"}],"predecessor-version":[{"id":19730,"href":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/wp-json\/wp\/v2\/posts\/19042\/revisions\/19730"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/wp-json\/wp\/v2\/media\/19040"}],"wp:attachment":[{"href":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/wp-json\/wp\/v2\/media?parent=19042"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/wp-json\/wp\/v2\/categories?post=19042"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/wp-json\/wp\/v2\/tags?post=19042"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}DOES THE DISEASE AFFECT CHILDREN FROM BIRTH?<\/span><\/h5>\n\n
SO YOUR WORK IS CENTRED ON THE DISEASE THAT IS CAUSED BY A FAULTY CLN1 GENE?<\/h5>\n\n
YOU THEN GENETICALLY ENGINEERED SHEEP TO CARRY THIS FAULTY GENE AND TREATED THEM WITH THE MISSING ENZYME? <\/h5>\n\n
HOW FAR ALONG IS THE RESEARCH? <\/h5>\n\n
WHAT ARE THE NEXT STEPS? <\/h5>\n\n
\n\n![\"\"](\"https:\/\/dj9jqhxgw9833.cloudfront.net\/uploads\/sites\/42\/2022\/11\/Tom-Wishart-935x1024.jpg\")
<\/figure><\/div>\n\nDR THOMAS WISHART <\/strong><\/h5>\n\n