<p>Doctors and researchers at a children's hospital in Canada have struck a rare success after gene therapy halted the progression of rare genetic condition in a young boy.&nbsp;</p>

<p>The boy, identified as Michael, reportedly received an individualised gene therapy at The Hospital for Sick Children (SickKids) in March 2022. Michael has spastic paraplegia type 50 (SPG50).</p>

<p>It is an "ultra-rare" progressive neurodegenerative disorder that causes developmental delays, speech impairment, seizures, a progressive paralysis of all four limbs, and is typically fatal by adulthood.&nbsp;</p>

<p><strong>Also watch |&nbsp;India's homegrown, low-cost Car-T cell therapy | The race to cure Cancer</strong></p>

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<p>According to the findings of Michael's gene therapy published in the Nature journal, approximately 80 children around the world are affected by this genetic condition.</p>

<h2><strong>SPG 50 gene therapy treatment: What did scientists do?</strong></h2>

<p>In a bid to slow the progression of the condition, a clinical research team at SickKids administered a first single-patient gene therapy to Michael less than three years after his initial diagnosis, according to a report in the Medical Express.&nbsp;</p>

<h2><strong>What is gene therapy?</strong></h2>

<p>Gene therapy is a way of delivering a healthy copy of a gene into the cells of a person who has a faulty gene(s). In Michael's case, SPG50 is caused by two pathogenic variants in a gene called AP4M1.</p>

<p>"While these ultra-rare diseases are unique, our workflow provides a road map for gene therapies that could help many of the thousands of children in Canada with rare genetic conditions," Dr Jim Dowling, Staff Physician in the Division of Neurology and Senior Scientist in the Genetics &amp; Genome Biology program at SickKids, was quoted as saying by the Medical Express.</p>

<p><strong>Also read |&nbsp;<a href="https://www.wionews.com/science/gene-therapy-breakthrough-restores-hearing-ability-in-deaf-children-654167">Gene therapy breakthrough restores hearing ability in deaf children</a></strong></p>

<p>During the gene therapy, Michael was able to stand with his heels on the ground. He also experienced improvements in some aspects of his neurodevelopment.</p>

<p>"When we heard that Michael had been diagnosed with this terrible disease, our world fell apart. We were lost and broken as a family," Michael's parents, Terry and Georgia told Medical Express.&nbsp;</p>

<p>"Thankfully, we had an amazing team at SickKids and a supportive community that lifted us up and gave us the confidence to raise millions of dollars and create a therapy, not only for Michael, but for other children affected by this disease for generations to come."<br />
<br />
<em>(With inputs from agencies)</em></p>


Doctors and researchers at a children's hospital in Canada have struck a rare success after gene therapy halted the progression of rare genetic condition in a young boy.

Doctors and researchers at a children's hospital in Canada have struck a rare success after gene therapy halted the progression of rare genetic condition in a young boy. The boy, identified as Michael, reportedly received an individualised gene therapy at The Hospital for Sick Children (SickKids) in March 2022. Michael has spastic paraplegia type 50 (SPG50). It is an "ultra-rare" progressive neurodegenerative disorder that causes developmental delays, speech impairment, seizures, a progressive paralysis of all four limbs, and is typically fatal by adulthood. Also watch | India's homegrown, low-cost Car-T cell therapy | The race to cure Cancer × According to the findings of Michael's gene therapy published in the Nature journal, approximately 80 children around the world are affected by this genetic condition. SPG 50 gene therapy treatment: What did scientists do? In a bid to slow the progression of the condition, a clinical research team at SickKids administered a first single-patient gene therapy to Michael less than three years after his initial diagnosis, according to a report in the Medical Express. What is gene therapy? Gene therapy is a way of delivering a healthy copy of a gene into the cells of a person who has a faulty gene(s). In Michael's case, SPG50 is caused by two pathogenic variants in a gene called AP4M1. "While these ultra-rare diseases are unique, our workflow provides a road map for gene therapies that could help many of the thousands of children in Canada with rare genetic conditions," Dr Jim Dowling, Staff Physician in the Division of Neurology and Senior Scientist in the Genetics & Genome Biology program at SickKids, was quoted as saying by the Medical Express. Also read | Gene therapy breakthrough restores hearing ability in deaf children During the gene therapy, Michael was able to stand with his heels on the ground. He also experienced improvements in some aspects of his neurodevelopment. "When we heard that Michael had been diagnosed with this terrible disease, our world fell apart. We were lost and broken as a family," Michael's parents, Terry and Georgia told Medical Express. "Thankfully, we had an amazing team at SickKids and a supportive community that lifted us up and gave us the confidence to raise millions of dollars and create a therapy, not only for Michael, but for other children affected by this disease for generations to come." (With inputs from agencies)

Gene therapy gives life to child with rare genetic disorder in major medical breakthrough

<p>A rare case of a foetus growing inside liver of a 33-year-old woman in Canada has come to light. &nbsp;</p>

<p>The revelation was shared by the doctor, who diagnosed the unusual condition in the patient.&nbsp;&nbsp;</p>

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<p>Dr Michael Narvey, paediatrician, Children's Hospital Research Institute of Manitoba in Canada, has also uploaded a video on social media. &nbsp;</p>

<p><strong>Also Read:&nbsp;<a href="https://www.wionews.com/world/young-mans-death-in-new-zealand-linked-to-pfizer-covid-vaccine-after-he-suffered-from-myocarditis-438298" hreflang="en">Young man's death in New Zealand linked to Pfizer Covid vaccine after he suffered from myocarditis</a></strong></p>

<p>Dr Narvey said, “I thought I had seen it all but then a 33-year-old woman comes in with a 14-day history of menstrual bleeding and 49 days since her last menstrual period." &nbsp;</p>

<p>On examination of the patient, the doctor unearthed an ectopic pregnancy in the liver of the woman, reported The Sun.&nbsp;</p>

<p>In simple terms, an ectopic pregnancy means a condition when a fertilised egg, instead of getting implanted in the uterine cavity, gets stuck in any other part of the body. &nbsp;</p>

<p><strong>Also Read:&nbsp;<a href="https://www.wionews.com/world/chinas-northwest-region-hit-with-hemorrhagic-fever-438362" hreflang="en">China's northwest region hit with hemorrhagic fever</a></strong></p>

<p>As per the National Centre for Biotechnology Information, ectopic pregnancy in the liver is "exceptionally rare." &nbsp;&nbsp;</p>

<p>In the video, Dr Narvey added, "We see this sometimes in the abdomen but never in the liver. This is a first for me." &nbsp;</p>

<p>The surgeons saved the life of woman by removing the foetus, who couldn't be saved. &nbsp;</p>

<p><em>(With inputs from agencies)&nbsp;</em></p>


A rare case of a foetus growing inside liver of a 33-year-old woman in Canada has come to light. The revelation was shared by the doctor, who diagnosed the unusual condition in the patient.

A rare case of a foetus growing inside liver of a 33-year-old woman in Canada has come to light. The revelation was shared by the doctor, who diagnosed the unusual condition in the patient. × Dr Michael Narvey, paediatrician, Children's Hospital Research Institute of Manitoba in Canada, has also uploaded a video on social media. Also Read: Young man's death in New Zealand linked to Pfizer Covid vaccine after he suffered from myocarditis Dr Narvey said, “I thought I had seen it all but then a 33-year-old woman comes in with a 14-day history of menstrual bleeding and 49 days since her last menstrual period." On examination of the patient, the doctor unearthed an ectopic pregnancy in the liver of the woman, reported The Sun. In simple terms, an ectopic pregnancy means a condition when a fertilised egg, instead of getting implanted in the uterine cavity, gets stuck in any other part of the body. Also Read: China's northwest region hit with hemorrhagic fever As per the National Centre for Biotechnology Information, ectopic pregnancy in the liver is "exceptionally rare." In the video, Dr Narvey added, "We see this sometimes in the abdomen but never in the liver. This is a first for me." The surgeons saved the life of woman by removing the foetus, who couldn't be saved. (With inputs from agencies)

"Extremely rare" pregnancy: Foetus found inside liver of 33-year-old woman in Canada

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Gene therapy gives life to child with rare genetic disorder in major medical breakthrough

"Extremely rare" pregnancy: Foetus found inside liver of 33-year-old woman in Canada