/channels/news_feeds/all/term/CHU%20Sainte-Justine%20Research%20Center/rss en /channels/channels/news/quebec-siblings-rare-orphan-disease-lead-discovery-rare-genetic-diseases-296454 <div class="field field-name-body field-type-text-with-summary field-label-hidden"><div class="field-items"><div class="field-item even"><p>Mutations in a gene involved in brain development have led to the discovery of two new neurodevelopmental diseases by an international team led by researchers at 9IÖÆ×÷³§Ãâ·Ñ and CHU Sainte-Justine Research Center.</p> <p>The first clues about the rare disorder arose after doctors were unable to diagnose why two siblings from Québec City were experiencing seizures and neurodevelopmental deficits. Desperate, the children’s family turned to Carl Ernst at the Douglas Mental Health University Institute in Montreal for answers.</p></div></div></div><div class="field field-name-field-primary-image field-type-image field-label-hidden"><div class="field-items"><div class="field-item even"><img class="no-float" src="/channels/files/channels/styles/wysiwyg_medium/public/channels/image/feature-rarediseases.jpg?itok=htQ-Xzz8" width="160" height="107" alt="" /></div></div></div><div class="field field-name-field-published-date field-type-datestamp field-label-hidden"><div class="field-items"><div class="field-item even"><div class="custom-multi-date"><div class="multi-date first"><span class="label">Published: </span><span class="day">25 </span><span class="month">April </span><span class="year">2019</span></div></div></div></div></div> Thu, 25 Apr 2019 15:06:05 +0000 webfull 148625 at /channels /channels/channels/news/identification-new-gene-causing-scoliosis-and-bone-malformations-282394 <div class="field field-name-body field-type-text-with-summary field-label-hidden"><div class="field-items"><div class="field-item even"><p>A unique collaboration among Shriners Hospital for Children – Canada, CHU Sainte-Justine and 9IÖÆ×÷³§Ãâ·Ñ has enabled researchers to identify genetic mutations involved in a rare disease that causes scoliosis and bone malformations.</p> <p>The findings, published in <em>The American Journal of Human Genetics,</em> are likely to help doctors recognize the genetic disease, and could someday lead to therapies for the condition.</p></div></div></div><div class="field field-name-field-primary-image field-type-image field-label-hidden"><div class="field-items"><div class="field-item even"><img class="no-float" src="/channels/files/channels/styles/wysiwyg_medium/public/channels/image/group_photo1.jpg?itok=ytcSnHOp" width="160" height="114" alt="" /></div></div></div><div class="field field-name-field-published-date field-type-datestamp field-label-hidden"><div class="field-items"><div class="field-item even"><div class="custom-multi-date"><div class="multi-date first"><span class="label">Published: </span><span class="day">2 </span><span class="month">November </span><span class="year">2017</span></div></div></div></div></div> Thu, 02 Nov 2017 16:53:24 +0000 webfull 132364 at /channels