{"id":137526,"date":"2018-05-07T10:56:35","date_gmt":"2018-05-07T14:56:35","guid":{"rendered":"https:\/\/today.uconn.edu\/?post_type=school-college-post&p=137526"},"modified":"2018-05-07T10:56:35","modified_gmt":"2018-05-07T14:56:35","slug":"walk-find-cure-angelman-syndrome","status":"publish","type":"post","link":"https:\/\/today.uconn.edu\/2018\/05\/walk-find-cure-angelman-syndrome\/","title":{"rendered":"Walk to Find a Cure for Angelman Syndrome"},"content":{"rendered":"

Connecticut is hosting its 20th<\/sup> annual Angelman Syndrome Foundation Walk<\/a> on Saturday, May 19 at 10:00 a.m. in Cheshire.<\/strong><\/p>\n

\"\"
2017 Angelman Syndrome Foundation Walk (Photo Courtesy of Dr. Chamberlain).<\/em><\/figcaption><\/figure>\n

Each year the nation\u2019s ASF Walks raise over a million dollars in essential funding to advance research and find treatments and a cure for Angelman Syndrome. Funds raised also provide critical resources and family support services.<\/p>\n

UConn Health is an annual sponsor of CT\u2019s ASF Walk and its “UConn Health AS Research\u201d team of faculty and staff will be led by Dr. Stormy Chamberlain<\/a>, the Raymond and Beverly Sackler Associate Professor in the Department of Genetics and Genome Science.<\/p>\n

Children born with Angelman Syndrome experience delayed development, usually cannot speak more than a few words, and can be unusually fair with blond hair and blue eyes. They also tend to be happy, and smile a lot. Most children are not diagnosed until at least a year old with doctors rarely recognizing it. Children can often be given a generic misdiagnosis of autism instead.<\/p>\n

\u201cUConn Health is deeply invested in Angelman Syndrome research and the affected families,\u201d says Chamberlain. Her laboratory and three others at UConn and UConn Health are actively doing research to help the 38 families in Connecticut and others beyond with a child with Angelman Syndrome. \u00a0As a developmental geneticist Chamberlain researches Angelman Syndrome at UConn Health using patients\u2019 donated blood and skin cells. In the lab she is able to turn these cells into stem cells and grow brain tissue cells called neural epithelium to advance scientific knowledge.<\/p>\n

Angelman Syndrome occurs when a single gene, UBE3A, is deleted on a child\u2019s 15th chromosome. As a result, brain cells of individuals with the genetic defect fail to mature, disrupting the ability of the cells to form proper synaptic connections and causing a cascade of other developmental deficits that result in the rare neurogenetic disorder.<\/p>\n

\"\"
2017\u00a0 Angelman Syndrome Foundation Walk (Photo Courtesy of Dr. Chamberlain).<\/em><\/figcaption><\/figure>\n

What:<\/strong> CT\u2019s Angelman Syndrome Foundation Walk<\/p>\n

When:<\/strong> Saturday, May 19
\nRegistration: 9:00 a.m.
\nWalk Begins: 10:00 a.m.<\/p>\n

Where:<\/strong> Cheshire High School
\n525 S. Main Street, Cheshire, CT<\/p>\n

Register:<\/strong> online<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"

Walk with UConn Health at Connecticut’s 20th annual Angelman Syndrome Foundation Walk taking place on Saturday, May 19 at 10:00 a.m. in Cheshire. <\/p>\n","protected":false},"author":98,"featured_media":137530,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_crdt_document":"","wds_primary_category":0,"wds_primary_series":0,"wds_primary_attribution":0,"footnotes":""},"categories":[1868],"tags":[],"magazine-issues":[],"coauthors":[1873],"class_list":["post-137526","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-meds"],"pp_statuses_selecting_workflow":false,"pp_workflow_action":"current","pp_status_selection":"publish","acf":[],"publishpress_future_action":{"enabled":false,"date":"2026-05-03 04:56:10","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/137526","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/users\/98"}],"replies":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/comments?post=137526"}],"version-history":[{"count":0,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/137526\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/media\/137530"}],"wp:attachment":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/media?parent=137526"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/categories?post=137526"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/tags?post=137526"},{"taxonomy":"magazine-issue","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/magazine-issues?post=137526"},{"taxonomy":"author","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/coauthors?post=137526"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}