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Genetics

anita
@docdhanrajani
@RheumNow šŸŽ‰ Celebrated 50 years of #PediatricRheumatology at #ACR2026! Meet the Masters: 3 pioneers reflected on the evolution of our field—from early genetics and DMARDs to biologics—and envisioned the future of precision medicine, novel therapies, and mentorship. What a treat
Mrinalini Dey
@DrMiniDey
Anti-mitofusin-1 IgG was found in 9.7% of 638 ESPOIR patients with early arthritis. In RF/ACPA-negative patients, positivity was linked to higher odds of erosions at 2 years (aOR 3.47; 95% CI 1.17-11.0). A potential marker of erosive seronegative RA. #2932 @Rheumnow #ACR26
Daric Mueller, PA-C
@rheumPAC
Not your father’s polyarteritis nodosa Abst2099 explores shifting trends in PAN given hx decline of HBV, recog of genetic vasculitides (DADA2, VEXAS). Of n=120 Dx ā€˜d PAN in Turkish vasculitis database, 70 idiopathic, 28 FMF, 16 DADA2, 4 HBV, 1 VEXAS, 1 MDS @Rheumnow #ACR26
Mrinalini Dey
@DrMiniDey
FLEET-RA: HRCT found subclinical/undiagnosed ILD in 13.6% of 390 RA patients. MUC5B risk variant was associated with higher odds (OR 3.58), alongside age, sex, smoking, RF and activity. Potential for targeted screening. @Rheumnow #2883 #ACR26
Audrey Gibson
@Gibson_RheumPAC
Is an acidic joint environment accelerating OA? New translational research links joint acidosis to chondrocyte senescence, while GPR68 activation appears to attenuate senescence responses.A potential therapeutic target beyond pain relief! Yung et al. | #LB03 @RheumNow #ACR26
Antoni Chan MD (Prof)
@synovialjoints
Zurich single cell study of 21,625 CD8 T cells in HLA B27 positive axSpA: YeiH specific TRBV9 clones showed a mucosal, chronically stimulated phenotype. Key finding: the same clonotypes spanned naive to effector states, consistent with ongoing replenishment of this T cell pool.
Mrinalini Dey
@DrMiniDey
Why do MTX metabolite profiles vary? PROMOTE/JIA linked FPGS variants to lower long-chain:short-chain MTX-polyglutamate ratios in a genetic analysis of 140 children. Supports precision medicine strategies aimed at identifying non-responders early in JIA #1824 #ACR26 @Rheumnow
anita
@docdhanrajani
@RheumNow #ACR2026 Abstract #0129 (Poster) The Lupus Gene Curation Expert Panel (GCEP) evaluated 55 genes implicated in monogenic lupus using ClinGen’s clinical validity framework. 5 genes achieved definitive gene–disease association: C1QA, C1QB, C1QC, DNASE1L3 and PRKCD.
Brian Jaros, MD
@Dr_Brian_MD
Is HLA-B*52 the most frequent risk allele for TAK in non-Asian populations? Abst #0005 mono-center cross-sectional analysis of 76 Brazilian TAK patients HLA-B*52 retains greatest odds ratio for TAK B*41 and B*44 were novel HLA risk arrangements! @RheumNow #ACR26
Dr. John Cush
@RheumNow
Beyond Chondrocalcinosis - What’s New in CPPD Disease An overview of calcium pyrophosphate deposition (CPPD) disease by Sara Tedeschi presents our evolving understanding of CPPD with advances affecting nomenclature, classification, imaging, genetics, long-term outcomes and https://t.co/YrFjGJZDph
Dr. John Cush
@RheumNow
Beyond Chondrocalcinosis - What’s New in CPPD Disease An overview of calcium pyrophosphate deposition (CPPD) disease by Sara Tedeschi presents our evolving understanding of CPPD with advances affecting nomenclature, classification, imaging, genetics, long-term outcomes and https://t.co/HmDgB9nNbm
Dr. John Cush
@RheumNow
Monogenic Inflammatory Disorders Go Unrecognized Lancet Rheumatology published a large cohort analysis using a genome-first approach with whole-exome sequencing, finding a prevalence of 1 in 4026 (159/640092) for monogenic disorders, half with inflammatory features. Only one https://t.co/bItqMXIoUH
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