Kansas City, MO – Karen Staehling-Hampton and Olivier Pourquie have discovered a gene mutation that causes Jarcho-Levin Syndrome. It's a rare hereditary disorder that's characterized by severe vertebrae and rib deformities. Porquie says he first studied a group of genes responsible for spinal development in mice and chic embryos. And then:
Porquie: We looked after those genes in humans and found that one of these genes was disrupted in patients that have Jarchom Syndrome.
Porquie also says other researchers were involved in the study and have since formed an international group to continue research on spinal and scoliosis disorders. The study took 2 years to complete and was published in the American Journal of Human Genetics this week.
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