Individuals suffering from severe allergies have reason to celebrate, as doctors have uncovered a particular gene that could be causing the reactions 91裸聊视频� as well as a drug that can help treat it.
In a new study released this month, more than 90 researchers 91裸聊视频� including Dr. Stuart Turvey and Dr. Mehul Sharma at BC Children91裸聊视频檚 Hospital Research Institute 91裸聊视频� have uncovered variants in the STAT6 gene 91裸聊视频� a part of the immune system that helps with balance and regulation.
Put simply, the STAT6 gene is a 91裸聊视频済ain-of-function variant,91裸聊视频� meaning that its biological function is enhanced, or turned on all the time, telling the immune system it91裸聊视频檚 91裸聊视频済o time91裸聊视频� constantly, according to the research.
Sharma likened the gene variant to a runaway train or a musician who won91裸聊视频檛 stop playing: it won91裸聊视频檛 stop going and attacks everything in the body as if it91裸聊视频檚 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 Turvey91裸聊视频檚 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 91裸聊视频渁ha moment,91裸聊视频� Sharma said it came slowly over the years.
91裸聊视频淎nytime something does work, you91裸聊视频檙e always a little cautious at first. You want to make sure that what you91裸聊视频檙e seeing is actually real. So you repeat the experiments again.91裸聊视频�
Once enough biological samples were received confirming the STAT6 variant in each of the patients, doctors began testing different drugs. They discovered Dupilumab 91裸聊视频� used to treat asthma and eczema 91裸聊视频� effectively treated the patients in the study. Dupilumab helps act in one of the gene pathways and shuts down the 91裸聊视频渞unaway train91裸聊视频� behaviour.
Liu said that not only has it improved his life but the lives of everyone around him.
91裸聊视频淲hen I had all my medical issues, I couldn91裸聊视频檛 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, I91裸聊视频檓 not crying anymore.91裸聊视频�
Liu91裸聊视频檚 thick and dry skin is gone. He doesn91裸聊视频檛 cough from constant inflammation and isn91裸聊视频檛 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.
91裸聊视频淚t feels great for us, but it91裸聊视频檚 even better for the patients,91裸聊视频� said Sharma, commenting on how it feels to have uncovered this medical mystery.
91裸聊视频淪ome of [these patients] have gone from clinic to clinic and hospital to hospital not knowing [what91裸聊视频檚 causing their disease] 91裸聊视频� Giving them a diagnosis of what disease they have, now they have ended their diagnostic odyssey and have an answer.91裸聊视频�
The journey to this discovery didn91裸聊视频檛 come without tragedy, with the original patient and first confirmed case of the disease dying.
They were the 91裸聊视频渃atalyst for a global collaboration that has finally provided hope to others like them,91裸聊视频� researchers said in a news release.
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