![\"\"](\"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-content\/uploads\/sites\/2\/2025\/03\/cropped-logo5.gif\" "\\"cropped-logo5.gif\\""){kind=logo}
<\/span>\n\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>Prader-Willi syndrome<\/h1><\/div>\n\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t![\"\"](\"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-content\/uploads\/sites\/2\/2025\/03\/Screen-Shot-2025-03-03-at-12.34.29-PM.png\" "\\"Screen")
<\/span>\n\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\tPrader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the loss of the paternally-inherited 15q11-q13 locus. We are currently investigating the functions of the SNURF-SNRPN gene, which is deleted or inactivated in nearly all patients with PWS. Since its discovery, it has been suspected that loss of the SNURF-SNRPN gene contributes to PWS. While nearly all human genes each produce a single protein, SNURF-SNRPN produces two. We are asking how the SNURF and SNRPN proteins are produced and regulated in laboratory cells that mimic the human brain, heart, and pancreas, which are the tissues that produce the highest levels of PWS-gene products. We are also working on experiments to learn what the SNURF and SNRPN proteins do in these cells. \u00a0We aim to better understand PWS, by learning about the production and roles of these two important proteins produced from the SNURF-SNRPN gene in critical tissues relevant to PWS.<\/div>\n\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\tWe were recently awarded a grant from the Prader-Willi Foundation.<\/a><\/p><\/div>\n\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t![\"\"](\"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-content\/uploads\/sites\/2\/2025\/03\/FPWR-header-logo.jpg\" "\\"FPWR-header-logo\\"")
<\/span>\n\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":3,"featured_media":0,"parent":8,"menu_order":3,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"![\"\"](\"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-content\/uploads\/sites\/2\/2025\/03\/Screen-Shot-2025-03-03-at-12.34.29-PM-1024x192.png\")
\r\n\r\nPrader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the loss of the paternally-inherited 15q11-q13 locus. We are currently investigating the functions of the SNURF-SNRPN gene, which is deleted or inactivated in nearly all patients with PWS. Since its discovery, it has been suspected that loss of the SNURF-SNRPN gene contributes to PWS. While nearly all human genes each produce a single protein, SNURF-SNRPN produces two. We are asking how the SNURF and SNRPN proteins are produced and regulated in laboratory cells that mimic the human brain, heart, and pancreas, which are the tissues that produce the highest levels of PWS-gene products. We are also working on experiments to learn what the SNURF and SNRPN proteins do in these cells. \u00a0We aim to better understand PWS, by learning about the production and roles of these two important proteins produced from the SNURF-SNRPN gene in critical tissues relevant to PWS.\r\n\r\n \r\n\r\nWe were recently awarded a grant from the Prader-Willi Foundation.<\/a>\r\n\r\n<\/a>\r\n\r\n ","_et_gb_content_width":"","footnotes":""},"class_list":["post-451","page","type-page","status-publish","hentry"],"jetpack_sharing_enabled":true,"jetpack_shortlink":"https:\/\/wp.me\/ParKnc-7h","_links":{"self":[{"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/pages\/451","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/comments?post=451"}],"version-history":[{"count":13,"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/pages\/451\/revisions"}],"predecessor-version":[{"id":676,"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/pages\/451\/revisions\/676"}],"up":[{"embeddable":true,"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/pages\/8"}],"wp:attachment":[{"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/media?parent=451"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
<\/span>\n\t\t\t<\/div>We were recently awarded a grant from the Prader-Willi Foundation.<\/a><\/p><\/div>\n\t\t\t<\/div><\/span>\n\t\t\t<\/div>\n\t\t\t<\/div>\r\n\r\nPrader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the loss of the paternally-inherited 15q11-q13 locus. We are currently investigating the functions of the SNURF-SNRPN gene, which is deleted or inactivated in nearly all patients with PWS. Since its discovery, it has been suspected that loss of the SNURF-SNRPN gene contributes to PWS. While nearly all human genes each produce a single protein, SNURF-SNRPN produces two. We are asking how the SNURF and SNRPN proteins are produced and regulated in laboratory cells that mimic the human brain, heart, and pancreas, which are the tissues that produce the highest levels of PWS-gene products. We are also working on experiments to learn what the SNURF and SNRPN proteins do in these cells. \u00a0We aim to better understand PWS, by learning about the production and roles of these two important proteins produced from the SNURF-SNRPN gene in critical tissues relevant to PWS.\r\n\r\n \r\n\r\nWe were recently awarded a grant from the Prader-Willi Foundation.<\/a>\r\n\r\n<\/a>\r\n\r\n ","_et_gb_content_width":"","footnotes":""},"class_list":["post-451","page","type-page","status-publish","hentry"],"jetpack_sharing_enabled":true,"jetpack_shortlink":"https:\/\/wp.me\/ParKnc-7h","_links":{"self":[{"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/pages\/451","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/comments?post=451"}],"version-history":[{"count":13,"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/pages\/451\/revisions"}],"predecessor-version":[{"id":676,"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/pages\/451\/revisions\/676"}],"up":[{"embeddable":true,"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/pages\/8"}],"wp:attachment":[{"href":"https:\/\/labs.bio.cmu.edu\/mcmanus\/wp-json\/wp\/v2\/media?parent=451"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}