{"id":162866,"date":"2023-04-26T22:25:39","date_gmt":"2023-04-27T03:25:39","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2023\/04\/researchers-discover-a-novel-genetic-disorder-associated-with-neurodevelopmental-differences"},"modified":"2023-04-26T22:25:39","modified_gmt":"2023-04-27T03:25:39","slug":"researchers-discover-a-novel-genetic-disorder-associated-with-neurodevelopmental-differences","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2023\/04\/researchers-discover-a-novel-genetic-disorder-associated-with-neurodevelopmental-differences","title":{"rendered":"Researchers discover a novel genetic disorder associated with neurodevelopmental differences"},"content":{"rendered":"<p><a class=\"aligncenter blog-photo\" href=\"https:\/\/lifeboat.com\/blog.images\/researchers-discover-a-novel-genetic-disorder-associated-with-neurodevelopmental-differences2.jpg\"><\/a><\/p>\n<p>Researchers from Children\u2019s Hospital of Philadelphia (CHOP) and Princeton University have discovered a novel genetic disorder associated with neurodevelopmental differences. The discovery identified the disorder in 21 families from all over the world. The study \u201cAbrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish\u201d is published in <i>Science Advances<\/i> today, April 26.<\/p>\n<p>The as-yet unnamed disorder is the result of a series of rare variants in the MAP4K4 gene, which is involved in many signaling pathways, including the RAS pathway that normal cell growth, and is being investigated as druggable target for multiple disorders.<\/p>\n<p>The researchers had documented several patients with craniofacial and neurodevelopmental issues that indicated a then-unknown genetic cause. They put out an international call for patients who seemed to fit these specific criteria. Ultimately, they were able to identify patients from 36 countries to determine whether there was a genetic <a href=\"https:\/\/medicalxpress.com\/tags\/variant\/\" rel=\"tag\" class=\"\">variant<\/a> linking them to their clinical issues.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Researchers from Children\u2019s Hospital of Philadelphia (CHOP) and Princeton University have discovered a novel genetic disorder associated with neurodevelopmental differences. The discovery identified the disorder in 21 families from all over the world. The study \u201cAbrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish\u201d is published in Science Advances today, April 26. [\u2026]<\/p>\n","protected":false},"author":662,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,412],"tags":[],"class_list":["post-162866","post","type-post","status-publish","format-standard","hentry","category-biotech-medical","category-genetics"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/162866","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/662"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=162866"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/162866\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=162866"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=162866"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=162866"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}