{"id":12471,"date":"2015-05-13T21:24:45","date_gmt":"2015-05-13T21:24:45","guid":{"rendered":"http:\/\/healthmedicinet.com\/news\/tgen-study-matches-infant-stiff-joint-syndromes-to-possible-genetic-origins\/"},"modified":"2015-05-13T21:24:45","modified_gmt":"2015-05-13T21:24:45","slug":"tgen-study-matches-infant-stiff-joint-syndromes-to-possible-genetic-origins","status":"publish","type":"post","link":"http:\/\/healthmedicinet.com\/news\/tgen-study-matches-infant-stiff-joint-syndromes-to-possible-genetic-origins\/","title":{"rendered":"TGen study matches infant stiff-joint syndromes to possible genetic origins"},"content":{"rendered":"<p>PHOENIX, Ariz. \u00e2\u20ac\u201d May 13, 2015 \u00e2\u20ac\u201d A study led by the Translational Genomics Research Institute (TGen) has for the first time matched dozens of infantile diseases and syndromes involving muscle weakness and stiff joints to their likely genetic origins.<\/p>\n<p>The study, in association with the University of British Columbia and BC Children\u00e2\u20ac\u2122s Hospital Vancouver, was published this month (May) in the <em>American Journal of Medical Genetics<\/em>. The study\u00e2\u20ac\u2122s goal is to better enable physicians and geneticists to advance new treatments that might help these children.<\/p>\n<p>\u00e2\u20ac\u0153It\u00e2\u20ac\u2122s amazing to us how diverse and complex the underlying genetics is for all of these diseases or syndromes,\u00e2\u20ac\u009d said Dr. Lisa Baumbach-Reardon, a TGen Associate Professor and the study\u00e2\u20ac\u2122s co-senior author. \u00e2\u20ac\u0153A better understanding of disorders with contractures  at birth and their associated genetics is critical for accurate diagnosis and optimal treatment.\u00e2\u20ac\u009d<\/p>\n<p>The study describes over 50 of the more than 400 rare, but specific, disorders associated with multiple muscle contractures and stiff joints among newborns. They affect arms, legs, torsos and other parts of the body, often in combinations.<\/p>\n<p>These more than 50 disorders are called \u00e2\u20ac\u0153X-linked\u00e2\u20ac\u009d syndromes, because the genes that cause them are on the X chromosome. Unaffected mothers can pass them on to their children, most often to their sons.<\/p>\n<p>The study, or compilation of studies, identified 20 different genes associated with three categories of these more than 50 syndromes:\n<\/p>\n<ul>\n<li>One category represented more than 20 syndromes in which the responsible X-linked genes have been identified.\n<\/li>\n<li>A second category represented seven distinct reports consistent with X-linkage and present with contractures.\n<\/li>\n<li>A third category represented an additional 20 syndromes with reported contractures that are suspected to be X-linked.<\/li>\n<\/ul>\n<p>\u00e2\u20ac\u0153Clearly, there are many different causes of stiff joints in newborns,\u00e2\u20ac\u009d said Dr. Judith Hall, Emerita Professor in the Departments of Pediatrics and Medical Genetics at the University of British Columbia and BC Children\u00e2\u20ac\u2122s Hospital, and the study\u00e2\u20ac\u2122s other co-senior author.<\/p>\n<p>\u00e2\u20ac\u0153We wanted to bring together the clinical description of each of these syndromes, and match them to genes, the biochemistry of genes, and the cellular pathways, in order to identify potential therapies,\u00e2\u20ac\u009d said Dr. Hall, one of the world\u00e2\u20ac\u2122s leading experts in describing birth defects. <\/p>\n<p>This ontology \u00e2\u20ac\u201d or search of all medical literature \u00e2\u20ac\u201d is believed to be the most comprehensive ever undertaking for these diseases.<\/p>\n<p>Dr. Jesse Hunter, a TGen Research Assistant Professor and the study\u00e2\u20ac\u2122s lead author, said understanding how to potentially intervene and prevent stiff joints during pregnancy are fundamental.<\/p>\n<p>\u00e2\u20ac\u0153Contractures can develop at any age as a result of neuromuscular dysfunction, or limitation of movement, but muscle innervation and movement in utero is particularly critical for normal joint development,\u00e2\u20ac\u009d Dr. Hunter said.<\/p>\n<p>The study, Review of X-Linked Syndromes with Arthrogryposis or Early Contractures \u00e2\u20ac\u201d Aid to Diagnosis and Pathway Identification, concludes: \u00e2\u20ac\u0153It is our hope that with advances in clinical evaluation, next generation sequencing, and bioinformatics tools, that these syndromes will (all) have identifiable molecular etiologies (causes) in the near future.\u00e2\u20ac\u009d<\/p>\n<p align=\"center\">###<\/p>\n<p>Major funding for this study was provided by TGen, the Muscular Dystrophy Association, and the Flinn Foundation, with additional funding from the TGen-Duke Biomedical Futures Program, the Helios Education Foundation, and the Freeport-McMoRan Copper  Gold Foundation.<\/p>\n<p><strong>About TGen<\/strong><\/p>\n<p>Translational Genomics Research Institute (TGen) is a Phoenix, Arizona-based non-profit organization dedicated to conducting groundbreaking research with life changing results. TGen is focused on helping patients with cancer, neurological disorders and diabetes, through cutting edge translational research (the process of rapidly moving research towards patient benefit). TGen physicians and scientists work to unravel the genetic components of both common and rare complex diseases in adults and children. Working with collaborators in the scientific and medical communities literally worldwide, TGen makes a substantial contribution to help our patients through efficiency and effectiveness of the translational process. For more information, visit: http:\/\/www.tgen.org.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>PHOENIX, Ariz. \u00e2\u20ac\u201d May 13, 2015 \u00e2\u20ac\u201d A study led by the Translational Genomics Research Institute (TGen) has for the first time matched dozens of infantile diseases and syndromes involving muscle weakness and stiff joints to their likely genetic origins. The study, in association with the University of British Columbia and BC Children\u00e2\u20ac\u2122s Hospital Vancouver, [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[],"tags":[],"class_list":["post-12471","post","type-post","status-publish","format-standard","hentry"],"_links":{"self":[{"href":"http:\/\/healthmedicinet.com\/news\/wp-json\/wp\/v2\/posts\/12471","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/healthmedicinet.com\/news\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/healthmedicinet.com\/news\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/healthmedicinet.com\/news\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/healthmedicinet.com\/news\/wp-json\/wp\/v2\/comments?post=12471"}],"version-history":[{"count":0,"href":"http:\/\/healthmedicinet.com\/news\/wp-json\/wp\/v2\/posts\/12471\/revisions"}],"wp:attachment":[{"href":"http:\/\/healthmedicinet.com\/news\/wp-json\/wp\/v2\/media?parent=12471"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/healthmedicinet.com\/news\/wp-json\/wp\/v2\/categories?post=12471"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/healthmedicinet.com\/news\/wp-json\/wp\/v2\/tags?post=12471"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}