The disease is an inherited genetic condition which affects a person’s red blood cells, causing them to twist into “sickle” shapes, which affects their ability to carry oxygen and causes them to get stuck in small blood vessels, causing them to burst, which manifests as bruising, bleeding and organ damage.
“We wanted to understand the beneficial mutation, so that hopefully one day people who weren’t lucky enough to have it along with their sickle cell disease mutation could be given the beneficial mutation,” she said. “We were looking for any areas of the genome which all the patients were missing, and we found there was one small area which was deleted in all the patients, so that’s what we concentrated on.”The region which was deleted turned out to be the part of the genome which “switches” the body from the type of haemoglobin found in babies to the type found in adults.Haemoglobin is a protein found in the blood which among other things gives red blood cells, and therefore blood, its red colour.
“The idea is one day, probably using smaller mutations than the large deletions used in this study, you could use gene therapy to introduce the beneficial mutations to people who have sickle cell disease,” she said.
Great to see Australian scientists leading the way
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Source: brisbanetimes - 🏆 13. / 67 Read more »
Source: brisbanetimes - 🏆 13. / 67 Read more »