Individuals suffering from severe allergies have reason to celebrate, as doctors have uncovered a particular gene that could be causing the reactions B次元官网网址� as well as a drug that can help treat it.
In a new study released this month, more than 90 researchers B次元官网网址� including Dr. Stuart Turvey and Dr. Mehul Sharma at BC ChildrenB次元官网网址檚 Hospital Research Institute B次元官网网址� have uncovered variants in the STAT6 gene B次元官网网址� a part of the immune system that helps with balance and regulation.
Put simply, the STAT6 gene is a B次元官网网址済ain-of-function variant,B次元官网网址� meaning that its biological function is enhanced, or turned on all the time, telling the immune system itB次元官网网址檚 B次元官网网址済o timeB次元官网网址� constantly, according to the research.
Sharma likened the gene variant to a runaway train or a musician who wonB次元官网网址檛 stop playing: it wonB次元官网网址檛 stop going and attacks everything in the body as if itB次元官网网址檚 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 TurveyB次元官网网址檚 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 B次元官网网址渁ha moment,B次元官网网址� Sharma said it came slowly over the years.
B次元官网网址淎nytime something does work, youB次元官网网址檙e always a little cautious at first. You want to make sure that what youB次元官网网址檙e seeing is actually real. So you repeat the experiments again.B次元官网网址�
Once enough biological samples were received confirming the STAT6 variant in each of the patients, doctors began testing different drugs. They discovered Dupilumab B次元官网网址� used to treat asthma and eczema B次元官网网址� effectively treated the patients in the study. Dupilumab helps act in one of the gene pathways and shuts down the B次元官网网址渞unaway trainB次元官网网址� behaviour.
Liu said that not only has it improved his life but the lives of everyone around him.
B次元官网网址淲hen I had all my medical issues, I couldnB次元官网网址檛 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, IB次元官网网址檓 not crying anymore.B次元官网网址�
LiuB次元官网网址檚 thick and dry skin is gone. He doesnB次元官网网址檛 cough from constant inflammation and isnB次元官网网址檛 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.
B次元官网网址淚t feels great for us, but itB次元官网网址檚 even better for the patients,B次元官网网址� said Sharma, commenting on how it feels to have uncovered this medical mystery.
B次元官网网址淪ome of [these patients] have gone from clinic to clinic and hospital to hospital not knowing [whatB次元官网网址檚 causing their disease] B次元官网网址� Giving them a diagnosis of what disease they have, now they have ended their diagnostic odyssey and have an answer.B次元官网网址�
The journey to this discovery didnB次元官网网址檛 come without tragedy, with the original patient and first confirmed case of the disease dying.
They were the B次元官网网址渃atalyst for a global collaboration that has finally provided hope to others like them,B次元官网网址� researchers said in a news release.
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