Fantastic interview with Ty Sperle and BCCHR's Dr Stuart Turvey (@turveylab.bsky.social) on a successful gene treatment for a rare immune disorder on The Current with Matt Galloway this morning.
www.cbc.ca/listen/live-...
@turveylab
Dr. Stuart Turvey and the Turvey lab are committed to improving child health through research. Our research transforms lives. There is urgency to what we do! We are based at UBC and BC Children's Hospital, Vancouver, Canada. π¨π¦ bcchr.ca/turveylab
Fantastic interview with Ty Sperle and BCCHR's Dr Stuart Turvey (@turveylab.bsky.social) on a successful gene treatment for a rare immune disorder on The Current with Matt Galloway this morning.
www.cbc.ca/listen/live-...
Ty Sperle says he felt βinsane shockβ after learning heβd been cured of a rare genetic disease through a clinical trial using a new gene-editing treatment.
In a world first, B.C. teen cured of rare disease through gene editing treatment. Ty Sperle cured of chronic granulomatous disease with a treatment known as βprime editing,β by Brenna Owen www.theglobeandmail.com/canada/briti... via @theglobeandmail.com
Great to talk with Matt Galloway on CBC The Current this morning about successful gene therapy for a human immune defect.
The Current with Matt Galloway - March 9, 2026: How a gene edit gave a B.C teen his life back.
www.cbc.ca/listen/live-...
@mattgalloway.bsky.social @bcchresearch.bsky.social
Learn how the early life #microbiome shapes immune programming in childhood #asthma and #allergies in this review from Stuart Turvey and colleagues mucosalimmunology.org/article/S193...
A multimorphic variant in ThPOK causes #InbornErrorsOfImmunity with T cell defects and #fibrosis, say Maryam Vaseghi-Shanjani, Mehul Sharma, Catherine M. Biggs, Stuart E. Turvey et al. @TurveyLab.bsky.social
rupress.org/jem/article/...
Instead of studying asthma only after children get sick, Dr. Stuart Turvey and his team at UBC have taken a different approach.
π© By analyzing infant stool samples, researchers found differences in gut bacteria that were associated with later development of #asthma: https://bit.ly/4rqPbHa
@romberglab.bsky.social!!
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. 2025 @washumedicine.bsky.social Pediatric
Research Retreat #Keynote by Stuart Turvey
B.C. man cured of rare disease in world-first for new gene-editing technology
https://www.newsbeep.com/ca/500965/
Ty Sperle says he felt βinsane shockβ after learning heβd been cured of a rare genetic disease throughβ¦
This is BRILLIANT!!
B.C. teen becomes first in the world cured of rare disease using gene editing π
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.
B.C. man cured of rare disease in world-first for new gene-editing technology - Ty Sperle says he felt βinsane shockβ after learning heβd been cured of a rare genetic disease through a clinical trial using a new gene-editing treatment.
Ultimate precision medicine!
Delighted to have played a small part to ensure our patient from @bcchresearch.bsky.social was able to receive this remarkable curative treatment.
Kudos to Dr. Elie Haddad for launching this trial in Canada.
@nejm.org @genomecanada.ca @genomebc.bsky.social
Ty Sperle says he felt "insane shock" after learning he'd been cured of a rare genetic disease through a clinical trial using a new gene-editing treatment.
Ultimate precision medicine!
Delighted to have played a small part to ensure our patient from @bcchresearch.bsky.social was able to receive this remarkable curative treatment.
Kudos to Dr. Elie Haddad for launching this trial in Canada.
@nejm.org @genomecanada.ca @genomebc.bsky.social
Ultimate precision medicine!
Delighted to have played a small part to ensure our patient from @bcchresearch.bsky.social was able to receive this remarkable curative treatment.
Kudos to Dr. Elie Haddad for launching this trial in Canada.
@nejm.org @genomecanada.ca @genomebc.bsky.social
#5 Kanegane et al review unresolved issues in the pathogenesis of X-linked agammaglobulinemia (XLA), incl. non-coding BTK variants, contiguous deletion syndrome, Helicobacter infection, non-infectious neurodegeneration, renal involvement & malignancies: rupress.org/jhi/article/...
#4 Type I IFN autoantibodies (auto-Abs) are associated w/ severe #COVID19. Peduti et al. reveal a 6.7% prevalence of auto-Abs in critically ill Brazilian patients, predominantly affecting older individuals, and links their presence to worse clinical outcomes: rupress.org/jhi/article/...
#3 30-year @esidsociety.bsky.social registry analysis of 30,628 patients' longitudinal datasets show results of robust epidemiological studies on natural courses including diagnosis, treatment, and survival, supporting newborn screening and future AI applications in IEI: rupress.org/jhi/article/...
#2 Bousfiha et al. present a decision tree-based diagnostic guide to human #InbornErrorsOfImmunity for physicians based on the 2024 update of the @iuis-online.bsky.social expert committee: rupress.org/jhi/article/...
#1: Poli et al. present the 2024 update of the @iuis-online.bsky.social classification of human #InbornErrorsOfImmunity including 67 novel monogenic defects and 2 new phenocopies. rupress.org/jhi/article/...
As 2025 wraps up, we're proud to celebrate the inaugural year of the Journal of Human Immunity (JHI)! π Here are our 5 most-read articles so far ππ§¬
Freeman, Thielen @thie0149.bsky.social and Pozos provide practical advice on prevention, diagnosis, and management of infections in #InbornErrorsOfImmunity as well as management of common complications such as bronchiectasis. rupress.org/jhi/article/...
#HowITreat
@clinimmsoc.bsky.social
Prime Editing for p47phox-Deficient Chronic Granulomatous Disease - nouvelle publication dans New England Journal of Medicine par Dr Elie Haddad et coll.
www.nejm.org/doi/full/10....
πππThis is really a remarkable breakthrough in treating patients with chronic granulomatous diseaseπππ
Proud to have played a very small part in this medical miracle.
@bcchresearch.bsky.social @nejm.org @bcchf.bsky.social @ubcmedicine.bsky.social
1/ A year ago, a 71-year-old Louisiana man died from H5N1, marking the first avian flu death in the US. Now we report in @jem.org that the cause of his death is rogue autoantibodies neutralizing type I IFN (AutoAb-IFN). doi.org/10.1084/jem....
Monogenic disorders of the IRF transcription factors. New review from Mattison Stojcic, Pariya Yousefi, Catherine Biggs, and Stuart Turvey @turveylab.bsky.social: rupress.org/jem/article/...
#Immunodeficiency #HumanDiseaseGenetics #GenesAndImmunity #InbornErrorsOfImmunity
Thanks for sharing @labwaggoner.bsky.social!
π’π’NEW PAPERπ’π’
Sequencing has greatly accelerated the number of known human genetic immune disorders--we immunologists call them 'inborn errors of immunity'.
This review in @jem.org is our attempt to summarize all the described single gene defects affecting the IRF family of transcription factors.
Using CHILD breastmilk samples, research led by Kate Donald published in PNAS uncovers a new link between maternal IgA, infant gut microbiota composition, and immune development: childstudy.ca/antibodies-i...