Individuals suffering from severe allergies have reason to celebrate, as doctors have uncovered a particular gene that could be causing the reactions 害羞草研究所� as well as a drug that can help treat it.
In a new study released this month, more than 90 researchers 害羞草研究所� including Dr. Stuart Turvey and Dr. Mehul Sharma at BC Children害羞草研究所檚 Hospital Research Institute 害羞草研究所� have uncovered variants in the STAT6 gene 害羞草研究所� a part of the immune system that helps with balance and regulation.
Put simply, the STAT6 gene is a 害羞草研究所済ain-of-function variant,害羞草研究所� meaning that its biological function is enhanced, or turned on all the time, telling the immune system it害羞草研究所檚 害羞草研究所済o time害羞草研究所� constantly, according to the research.
Sharma likened the gene variant to a runaway train or a musician who won害羞草研究所檛 stop playing: it won害羞草研究所檛 stop going and attacks everything in the body as if it害羞草研究所檚 an allergy.
The study included 16 patients from 10 families who had debilitating, life-long medical complications from severe allergies.
This included Patient 10, who had suffered from debilitating food and drug allergies, as well as asthma and eczema, since birth. Through Sharma and Turvey害羞草研究所檚 research and testing, they found a small change in the STAT6 gene with large implications.
The doctors then turned to help from researchers across the world, and found 16 patients within six weeks, all with similar severe complications.
As it turned out, they also had the same variant.
Jessie Liu, known as Patient 6, suffered from thick, dry and painful skin, as well as complete hair loss and infections in his bone marrow requiring multiple surgeries.
At 18 years old, the Hong Kong resident stood just over four feet tall. His body was unable to absorb nutrients due to organ damage.
When asked about the 害羞草研究所渁ha moment,害羞草研究所� Sharma said it came slowly over the years.
害羞草研究所淎nytime something does work, you害羞草研究所檙e always a little cautious at first. You want to make sure that what you害羞草研究所檙e seeing is actually real. So you repeat the experiments again.害羞草研究所�
Once enough biological samples were received confirming the STAT6 variant in each of the patients, doctors began testing different drugs. They discovered Dupilumab 害羞草研究所� used to treat asthma and eczema 害羞草研究所� effectively treated the patients in the study. Dupilumab helps act in one of the gene pathways and shuts down the 害羞草研究所渞unaway train害羞草研究所� behaviour.
Liu said that not only has it improved his life but the lives of everyone around him.
害羞草研究所淲hen I had all my medical issues, I couldn害羞草研究所檛 control my emotions. The vibe at home was so negative. It really impacted my family. But after, everything is so positive. I am always happy and laughing, I害羞草研究所檓 not crying anymore.害羞草研究所�
Liu害羞草研究所檚 thick and dry skin is gone. He doesn害羞草研究所檛 cough from constant inflammation and isn害羞草研究所檛 sick all the time. On top of that, in the more than two years since he started taking Dupilumab, he has grown almost eight inches taller.
害羞草研究所淚t feels great for us, but it害羞草研究所檚 even better for the patients,害羞草研究所� said Sharma, commenting on how it feels to have uncovered this medical mystery.
害羞草研究所淪ome of [these patients] have gone from clinic to clinic and hospital to hospital not knowing [what害羞草研究所檚 causing their disease] 害羞草研究所� Giving them a diagnosis of what disease they have, now they have ended their diagnostic odyssey and have an answer.害羞草研究所�
The journey to this discovery didn害羞草研究所檛 come without tragedy, with the original patient and first confirmed case of the disease dying.
They were the 害羞草研究所渃atalyst for a global collaboration that has finally provided hope to others like them,害羞草研究所� researchers said in a news release.
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