Dr. Stuart Turvey and the Turvey lab are commited to improving child health through research. Our research transforms lives. There is urgency to what we do!
Excited to share our new collaborative paper establishing biallelic OSMR deficiency as a novel primary atopic disorder!
Human germline biallelic loss-of-function OSMR variants cause severe allergic disease https://t.co/XxlvmqMG40
Excited to share our new collaborative paper establishing biallelic OSMR deficiency as a novel primary atopic disorder!
Human germline biallelic loss-of-function OSMR variants cause severe allergic disease https://t.co/XxlvmqMG40
هكذا يتراكم العلم؛ ملاحظة تقود لاكتشاف، واكتشاف يفتح بابا لفهم أعمق. قبل سنة تقريبًا، وصفنا جين ال OSM كسبب جديد لفشل نخاع العظم، واليوم دراسة جديدة توضح أن نقص المستقبل المرتبط فيه OSMR deficiency يسبب أمراض حساسية شديدة ومبكرة. المثير للاهتمام أن الدراسة تلمّح لفكرة مهمة,غياب الجين نفسه يؤثر على تكوّن ووظيفة نخاع العظم، بينما غياب المستقبل يعطّل إشارات مناعية والتهابية مرتبطة بالجلد والحساسية. هذا مثال جميل على كيف أن نفس المسار الحيوي ممكن يرتبط بأمراض مختلفة تمامًا حسب موقع الخلل فيه.
A new human inborn error of immunity: OSMR deficiency can underlie the HIES
Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome https://t.co/KdI3su4r8f
👍👍I agree @Info4PI! For patients with inborn errors of immunity, genetic counseling helps families make sense of a genetic diagnosis while also advancing the knowledge that leads to better diagnoses, treatments, and outcomes for future patients.
🧬 Genetic counseling is a process that helps individuals and families understand the likelihood of a genetic condition and what that risk may mean for them.
For families affected by #PrimaryImmunodeficiency, genetic counseling can provide clarity, guide decisions about genetic testing, and support earlier diagnosis and treatment.
Understanding your family history isn’t just information - it can be lifesaving. 💙
#GeneticCounseling #PrimaryImmunodeficiency #GeneticTesting #PIAwareness
New human inborn error of immunity!
By identifying biallelic OSMR deficiency as a novel Primary Atopic Disorder, we uncover a previously unrecognized mechanism driving severe allergic disease and provide new insights into the biology of human atopy.
Check out our new Editorial comment: Italian pediatric experts consensus statement on diagnosis and management of primary atopic disorders' - Vaseghi‐Shanjani - 2026 - Pediatric Allergy and Immunology - Wiley Online Library https://t.co/TODXjhCDQz
Instead of studying asthma only after children get sick, Dr. Stuart Turvey and his team at @UBC have taken a different approach.
💩 By analyzing infant stool samples, researchers found differences in gut bacteria that were associated with later development of #asthma: https://t.co/kKHuZI4ql6
Monogenic disorders of the IRF transcription factors. Review by Mattison Stojcic, Pariya Yousefi, Catherine Biggs, and Stuart Turvey: https://t.co/fn58sRcQWL
📘 In our #InnateImmunity collection: https://t.co/KsCiSOxEOn
#KSInnateImmune26
New CHILD research in @CellReports by Darlene Dai, Charisse Petersen, @TurveyLab et al. suggests #breastfeeding 🤱may reduce socioeconomic-based differences in children’s chronic disease risk by influencing the infant gut #microbiome 💩@BCCHresearch
More: https://t.co/uW87xtt6jv
New review: Allergy can be a genetic disease. Modi et al. show how primary atopic disorders reveal mechanisms controlling barrier integrity, immune signaling and tolerance, and inform precision therapies. From @turveylab:
https://t.co/pTetARCifC
#Atopy#Therapeutics
Who would have thought 30 yrs ago that there would be > 50 inborn errors of immunity underlying atopy ? This has been the most insightful study of allergy:
Primary atopic disorders: Monogenic insights into immunity https://t.co/fUvg9uIAPW
What can dirty diapers tell us about #asthma?
Clues from the gut #microbiome are reshaping how we understand pediatric asthma and allergies!
Breastfeeding, B. infantis, and early microbial exposures matter.
@WashUMedPeds#Keynote by Stuart Turvey
ASXL1 deficiency causes epigenetic dysfunction, combined #immunodeficiency, and EBV-associated lymphoma, say Maggie Fu, Mehul Sharma, Michael Kobor, Stuart Turvey, Catherine Biggs et al.
https://t.co/Mbie2f5DBZ
#InbornErrorsOfImmunity
B.C. teen becomes first in the world cured of rare disease using gene editing
18-year-old Ty Sperle from UBC Okanagan was Participant 1 in the trial. He had chronic granulomatous disease since age 5 and is now completely cured after the gene edit fixed his immune cells.