{"id":96714,"date":"2017-04-03T23:25:49","date_gmt":"2017-04-04T03:25:49","guid":{"rendered":"https:\/\/canadianinquirer.net\/v1\/?p=96714"},"modified":"2017-04-03T23:25:49","modified_gmt":"2017-04-04T03:25:49","slug":"toronto-doctors-identify-new-disease-in-children-caused-by-defective-gene","status":"publish","type":"post","link":"https:\/\/canadianinquirer.net\/v1\/2017\/04\/03\/toronto-doctors-identify-new-disease-in-children-caused-by-defective-gene\/","title":{"rendered":"Toronto doctors identify new disease in children caused by defective gene"},"content":{"rendered":"
\"Daniel<\/a>
Daniel Nevins-Selvadurai’s case had doctors at Toronto’s Hospital for Sick Children baffled. At age three, he had developed blood in his stool, a sign of possible hereditary inflammatory bowel disease. But testing for all the genetic mutations known to cause the condition came back negative. (Photo; Dr.Farouk\/Flickr<\/a>)<\/figcaption><\/figure>\n

TORONTO \u2014 Daniel Nevins-Selvadurai’s case had doctors at Toronto’s Hospital for Sick Children baffled. At age three, he had developed blood in his stool, a sign of possible hereditary inflammatory bowel disease. But testing for all the genetic mutations known to cause the condition came back negative.<\/p>\n

As he grew older, Daniel’s symptoms became more diverse. He developed unusual rashes and painful lumps in his legs, as well as having an abnormally high white cell count and low platelets in his blood, pointing to an unidentified problem with his immune system.<\/p>\n

A host of doctors at the hospital \u2014 among them specialists in blood disorders, cancer, rheumatology, immunology and gastroenterology \u2014 couldn’t pin down the cause of the child’s illness.<\/p>\n

\u201cNobody could give us a diagnosis, so he was passed from one specialist to another over the years and various people did various tests,\u201d said his mother, Christina Arulrajah. \u201cHe showed signs of so many different diseases.\u201d<\/p>\n

Still, Dr. Aleixo Muise, a gastroenterologist who had been seeing Daniel for his inflammatory bowel disease, or IBD, said that because of the boy’s wide-ranging symptoms \u201call the doctors thought that he must have a genetic cause to his disease.\u201d<\/p>\n

Then in 2014, a team led by Muise launched a project to explore the genetic basis of IBD, using an advanced technology for studying patients’ DNA. Daniel’s genome was among those investigated using a technique called whole-exome sequencing.<\/p>\n

It was then that they had their eureka moment.<\/p>\n

Testing of Daniel’s genome turned up a mutation never before seen. The defect was in a gene known as ARPC1B, which produces a protein the body’s cells need to change shape, move, divide and perform other vital functions.<\/p>\n

His ARPC1B gene was expressing none of this critical protein.<\/p>\n

\u201cARPC1B, we know, plays a very important role in the immune system and how different cells in the body \u2014 mostly found in the blood \u2014 work,\u201d said Muise.<\/p>\n

\u201cSometimes it’s surprising that one defect causes such widespread different types of disease in one patient, but this one mutation explains all the problems Daniel had.\u201d<\/p>\n

The Sick Kids team subsequently discovered two other patients who were related to each other but not to Daniel, who also had a mutation that left them with very little ARPC1B protein. Since then, about 20 children worldwide have been identified with the genetic mutation.<\/p>\n

\u201cIt gave us enough evidence to know that this was a brand new disease that hadn’t been described before,\u201d said Muise.<\/p>\n

The discovery of what’s been dubbed ARPC1B syndrome is described in Monday’s edition of the journal Nature Communications.<\/p>\n

\u201cDaniel was over the moon to get a diagnosis,\u201d said his mother. \u201cWhen they found out what was wrong, it was a real relief.<\/p>\n

\u201cIn his mind, it’s all about the cure. Now that there’s a diagnosis, there’s now going to be a cure.\u201d<\/p>\n

His doctors believe a bone-marrow transplant will give Daniel new blood cells \u2014 including immune cells \u2014 that won’t carry the genetic mutation. A search is now on for an appropriate donor for the 10-year-old.<\/p>\n

\u201cIf you do a bone-marrow transplant or you replace his immune system, this should cure him of his disease,\u201d said Muise.<\/p>\n

Daniel’s mother said she’s still trying to get her head around the notion of a cure after watching her son deal with so many health issues since infancy, the worst of which was seeing him repeatedly in pain.<\/p>\n

\u201cWhile we have never let his illness define him, and he remains a very positive and energetic boy, it was always on the back of his mind,\u201d Arulrajah said of her soccer-loving son.<\/p>\n

She hopes a successful bone-marrow transplant will mean an end to all the medications Daniel has had to take to treat his various symptoms over the years, including long courses of a steroid that have affected his growth.<\/p>\n

\u201cIt would be absolutely fantastic.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"

TORONTO \u2014 Daniel Nevins-Selvadurai’s case had doctors at Toronto’s Hospital for Sick Children baffled. At age three, he had developed …<\/p>\n","protected":false},"author":33,"featured_media":96719,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[18,37,16],"tags":[17461],"class_list":["post-96714","post","type-post","status-publish","format-standard","has-post-thumbnail","category-news-ca","category-health","category-news","tag-selvadurais-case","mauthors-sheryl-ubelacker","mauthors-the-canadian-press"],"_links":{"self":[{"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/posts\/96714","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/users\/33"}],"replies":[{"embeddable":true,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/comments?post=96714"}],"version-history":[{"count":0,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/posts\/96714\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/media\/96719"}],"wp:attachment":[{"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/media?parent=96714"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/categories?post=96714"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/tags?post=96714"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}