What is gene therapy? Gene Therapy

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Science: Gene therapy gave life to a child suffering from a rare genetic disorder, a major breakthrough in the treatment world in which a healthy copy of a gene is delivered to the cells of a person who has a faulty gene. In Michael’s case, SPG50 is caused by two pathogenic variants in a gene called AP4M1. Doctors and researchers at a Canadian children’s hospital have had a rare breakthrough when gene therapy stopped the development of a rare genetic condition in a young boy.

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Michael received a personalized gene therapy at SickKids. Michael has spastic paraplegia type 50 (SPG50). It is an “ultra-rare” progressive neurodegenerative disorder that causes developmental delays, speech loss, seizures, progressive paralysis of all four limbs, and is usually fatal by adulthood. According to Michael’s gene therapy findings, published in the journal Nature, approximately 80 children worldwide are affected by this genetic condition.

SPG50 Gene Therapy Treatment: What did the scientists do?

In an attempt to slow the progression of the condition, a clinical research team at SickKids gave Michael the first single-patient gene therapy less than three years after his initial diagnosis.

Gene therapy is a method of delivering a healthy copy of a gene into the cells of a person who has the faulty gene. 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 roadmap for gene therapy that could help many of the thousands of children in Canada suffering from rare genetic conditions,” Medical Xpress quoted Dr. Jim Dowling, staff physician in the Department of Neurology at SickKids and senior scientist in the Genetics and Genome Biology program, as saying. 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.

Michael’s parents Terry and Georgia told Medical Xpress, “When we heard that Michael was diagnosed with this terrible disease, our world fell apart. We were lost and broken as a family.” “Thankfully, we had an amazing team at SickKids and a supportive community that pushed us forward and gave us the confidence to raise millions of dollars and create a therapy not just for Michael, but for other children affected by this disease for generations to come.”
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What is gene therapy? Gene Therapy