Individuals suffering from severe allergies have reason to celebrate, as doctors have uncovered a particular gene that could be causing the reactions 含羞草研究社� as well as a drug that can help treat it.

In a new study released this month, more than 90 researchers 含羞草研究社� including Dr. Stuart Turvey and Dr. Mehul Sharma at BC Children含羞草研究社檚 Hospital Research Institute 含羞草研究社� have uncovered variants in the STAT6 gene 含羞草研究社� a part of the immune system that helps with balance and regulation.

Put simply, the STAT6 gene is a 含羞草研究社済ain-of-function variant,含羞草研究社� meaning that its biological function is enhanced, or turned on all the time, telling the immune system it含羞草研究社檚 含羞草研究社済o time含羞草研究社� constantly, according to the research.

Sharma likened the gene variant to a runaway train or a musician who won含羞草研究社檛 stop playing: it won含羞草研究社檛 stop going and attacks everything in the body as if it含羞草研究社檚 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含羞草研究社檚 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 含羞草研究社渁ha moment,含羞草研究社� Sharma said it came slowly over the years.

含羞草研究社淎nytime something does work, you含羞草研究社檙e always a little cautious at first. You want to make sure that what you含羞草研究社檙e seeing is actually real. So you repeat the experiments again.含羞草研究社�

Once enough biological samples were received confirming the STAT6 variant in each of the patients, doctors began testing different drugs. They discovered Dupilumab 含羞草研究社� used to treat asthma and eczema 含羞草研究社� effectively treated the patients in the study. Dupilumab helps act in one of the gene pathways and shuts down the 含羞草研究社渞unaway train含羞草研究社� behaviour.

Liu said that not only has it improved his life but the lives of everyone around him.

含羞草研究社淲hen I had all my medical issues, I couldn含羞草研究社檛 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含羞草研究社檓 not crying anymore.含羞草研究社�

Liu含羞草研究社檚 thick and dry skin is gone. He doesn含羞草研究社檛 cough from constant inflammation and isn含羞草研究社檛 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.

含羞草研究社淚t feels great for us, but it含羞草研究社檚 even better for the patients,含羞草研究社� said Sharma, commenting on how it feels to have uncovered this medical mystery.

含羞草研究社淪ome of [these patients] have gone from clinic to clinic and hospital to hospital not knowing [what含羞草研究社檚 causing their disease] 含羞草研究社� Giving them a diagnosis of what disease they have, now they have ended their diagnostic odyssey and have an answer.含羞草研究社�

The journey to this discovery didn含羞草研究社檛 come without tragedy, with the original patient and first confirmed case of the disease dying.

They were the 含羞草研究社渃atalyst for a global collaboration that has finally provided hope to others like them,含羞草研究社� researchers said in a news release.

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