The Clinical Immunogenomics Research Consortium
@CIRCA_genomics
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CIRCA is a national, Garvan-led collaboration of medical and scientific professionals that investigates the genetic causes of rare immune diseases.
Joined October 2019
Funding for med research in Aust 🇦🇺 is very tough. So it’s a HUGE relief to know I can continue doing the science we do for the next 5 yrs, supported by this @nhmrc investigator grant. Congrats to my @GarvanInstitute colleagues and many others who were also successful
Eight researchers from Garvan have been awarded highly competitive National Health and Medical Research Council (NHMRC) Investigator Grants. Find out more: https://t.co/xHg4xUvDE6 @‌drjosephpowell @stutangye @‌thomasrcox @jodieingles27
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DN mutations in OTULIN cause autoinflamm disease. Beautiful paper from @science_sophie @sethmasters & colleagues incl Paul Gray @CIRCA_genomics. well done to all involved. https://t.co/zY1xW9qGYj
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Our world leading #Inflammation programs enter a new era with the appointment of Prof @sethmasters to lead the Centre for Innate Immunity & Infectious Diseases (@CiiiD_Hudson)! 👏🏽
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And this builds on ground breaking work done and collaborations established by @CIRCA_genomics over the last 8 yrs.
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@GarvanInstitute @WEHI_research @JCSMR @jcu @SCHNkids @uwanews @RCHMelbourne looking forward to harmonizing immunogenomics across Australia with @vanessabryantoz @sethmasters @mattfield100 @DrCindyMa @ElissaDeenick @BelindaPhipson Anselm Enders, Paul Gray, Sarah Kummerfeld, Lloyd D'Orsogna, Theresa Cole, Chris Goodnow, Charlotte Slade, Ilia Voskoboinik
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This MRFF grant will allow us incr genetic diagnoses & improve outcomes for pts with rare immune diseases, & catalyze many terrific research opportunities. This is a collab with collegues across Aust @GarvanInstitute @WEHI_research @JCSMR @jcu @SCHNkids @uwanews @RCHMelbourne
Congratulations to Prof Stuart Tangye for being one of the four researchers to receive funding from the Medical Research Future Fund Genomics Health Futures Mission. “Every patient deserves an accurate diagnosis,” says Prof Tangye. Read more: https://t.co/9JFdMPJIkc
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A new era for global immunology research: the Snow Centre for Immune Health, being established at WEHI thanks to a $100m commitment from @SnowMedical. In partnership with @TheRMH the Centre will transform how we research and treat immune disease. More 👇 https://t.co/4Kom54Hs89
wehi.edu.au
The Snow Medical Research Foundation will establish one of the world’s leading immunology research centres at WEHI through a partnership with an initial commitment of $100 million over 10 years.
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Amazing work by Tom Le Voyer @anne_puel JLC @casanova_lab and many others. Thrilled that I @DrCindyMa @GarvanInstitute could play a small part. And that NFKB2 pts from @CIRCA_genomics in Australia 🇦🇺 contributed to this global 🌎 study!!
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This paper in @Nature is phenomenal. Mutations in NFKB2 cause immune disreg. But phenotypes can be variable. This study shows mutations in C term domain disrupt AIRE expn causing prod’n of autoAbs to type1 IFN. This explains viral susceptibility in these pts. Incl COVID.
1/ We are excited to report in @Nature the discovery that human inborn errors of the alternative NF-ÎşB pathway-dependent immunity underlie the development of auto-Abs neutralizing type I IFNs ( https://t.co/TFUOnBPIFi).
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For those of you interested in systemic autoinflammation/autoimmunity and snow related activities this conference may be of interest: https://t.co/eJsAlIcpwx
#KSAutoimmune24
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According to @NIH, #PrimaryImmunodeficiency may affect 1-2% of the population, and 70-90% of these cases remain #undiagnosed đź‘€ Retweet this post to help us shine a light on PI. #Awareness leads to #diagnosis, which leads to a better quality of life for people living with PI đź’–
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Thanks to @maanitruu @abcnews for chatting about some of the work we’re doing into immunity against COVID19 and ongoing SARS-CoV2 infections. Full story here.
abc.net.au
Scientists are still working to unpack the mystery of why some people keep catching the virus while others seem to be resistant. In the meantime, people like Marion have been left with more questions...
ABC News interviewed Garvan’s Professor Stuart Tangye for a story about why some people continually catch COVID-19. https://t.co/MftCLFJlBJ
@abcnews @stutangye
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We are proud to see our work on DOCK11 LOF variants underlying a novel immune dysregulation disorder published in the @NEJM. Check out how we uncovered novel roles for DOCK11 in T-cell shape, migration, cytokine production, and erythroid development. A thread 1/9
📢 @NEJM just published a breakthrough discovery that unveiled a rare #geneticdefect linking #bloodformation and #immunesystem. The study was led by scientists at @StAnna_CCRI, @CeMM_News, and @MedUni_Wien >>>🔗 https://t.co/OsMmw13Cbb
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(1/2): At #ESHG23 we have shown that Expanded Reproductive Genetic Carrier Screening (ERCS, RGCS) is safe to perform at scale: there is no risk of creating a pool of "genetic wallflower", even with very large panels.
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Moriya, Nakano, @SatoshiOkada3 @Hiroshima_Uni et al. establish a novel form of IEI due to DN RELA mutations as a cause of chronic mucocutaneous ulcerations with autoinflammatory and/or autoimmune manifestations. https://t.co/niImfq60oP
@casanova_lab #Immunodeficiency
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New review: @stutangye et al. discuss how the importance of human B cells in host defense against infectious diseases has been established by the discovery of inborn errors of immunity that disrupt B cell development, differentiation or function https://t.co/qNqhfz8dDJ
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A career highlight for me - invited to write a review on my fave topic: genetic defects that disrupt human B cell development and function. Just published in @JExpMed
https://t.co/t7pEAVnH7n
I've been studying human B cells since i started my PhD 30 yrs ago, & inborn errors disrupting B-cell function for >20 yrs. So it was a thrill and honor to be invited by @JExpMed to write a review on "Inborn errors of human B cell development, differentiation, and function"
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Outstanding study by @IsabelleMeyts @casanova_lab Sophie Hambleton and many others reporting complete STAT2 deficiency in 23 pts. @jclinicalinvest Check it out! JCI - Human inherited complete STAT2 deficiency underlies inflammatory viral diseases https://t.co/ihyHlDZSsz
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2/ Check out our lineup of excellent speakers here or the complete program on our website! 🎙️💬🔗 https://t.co/wdzrd4r9bD
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New work by CIRCA members @ElissaDeenick and @DeenickLab , @stutangye and @Tangye_Lab @GarvanInstitute Unravelling complexities of human disease due to germline variants in PIK3D and PIK3R1 causing #APDS. @AllaboutAPDS
Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2, say Tina Nguyen, Anthony Lau, @bier_julia, @stutangye @Tangye_Lab @ElissaDeenick @DeenickLab & colleagues @GarvanInstitute: https://t.co/6oNvXc1yKN
#Immunodeficiency
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