Genetics

@RheumNow 🎉 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

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

Abstract 2930: evaluated mosaic loss of Y chr in males w RA - ~24% with mLOY - assoc w older onset RA (33% v 16%) - smoking & comorbid higher among grp - unadjusted models assoc ILD, CVD, mortality but decreased and not significant in adjusted models @RheumNow #ACR26 https://t.co/kIHZrULaun

https://x.com/AkhilSoodMD/status/2120531493202411562/photo/1

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 ‘d PAN in Turkish vasculitis database, 70 idiopathic, 28 FMF, 16 DADA2, 4 HBV, 1 VEXAS, 1 MDS @Rheumnow #ACR26

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

Interesting abstract re:clonal hematopoiesis of ), age-related mutations in peripheral blood DNA CHIP was more common among pts w/GCA after correctingf or age and sex (OR 1.51). SRSF2 associated w/large vessel disease; TET2 associated w/cranial phenotype Not ready for clinic, https://t.co/ZEZiob0HWU

Why do pain conditions cluster? #ACR26 Abs# 1551 used Framingham family data to examine heritability of pressure pain threshold and conditioned pain modulation, plus genetic overlap with joint and non-joint pain. Pain sensitization may reflect shared biology. @RheumNow https://t.co/ESVWExCS5Y

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McDermott et al. Associated of an IPF polygenic risk score with RA-ILD. There is an impact of the additional genes but it is very modest, suggesting MUC5B is the main determinant of risk, and may not be value in extended genetics in RA-ILD @RheumNow #ACR26 Abstr#2881 https://t.co/0bfLRPgJk3

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Can genetics sharpen the search for silent RA-ILD? #ACR26: In 186 RA patients, 21% had subclinical ILD on HRCT. Clinical screening achieved an AUC of 0.713; adding MUC5B improved it only modestly to 0.739. Genetics adds risk, but limited discrimination. @RheumNow #ACR26 https://t.co/WjK8TFP45m

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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

Beyond CD19: engineered islet-specific Tregs in recent-onset T1D GNTI-122, phase 1, single dose 10^8 cells (n=3), 10^9 (n=3), 10^9 + rapamycin (n=10) DRB1*04:01+ only, 78 wk f/u DRB1*04:01 is the RA shared epitope. RA should be next. Jane Buckner @RheumNow #ACR26 https://t.co/KF7FnnPpnz

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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.

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

IgG4-RD has a season: onset clusters in winter Peak in Jan, low in Jul-Aug Pancreato-biliary drives the Jan peak Season of onset: χ²=21.3, p<0.001 Points to an environmental trigger. Ask about the winter before onset. Corona, ARD 2026 / Emanuel Della Torre @RheumNow #ACR26 https://t.co/SSVyHoCj9b

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@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.

Is HLA-B27 just a diagnostic marker—or a predictor of disease phenotype? #ACR26 Abs 0816 | ESPALDA-PANLAR: In 740 Latin American axSpA patients, HLA-B27 positivity was independently linked to younger age, uveitis, radiographic sacroiliitis & MRI inflammation. @RheumNow #ACR26 https://t.co/Em5GZNS7iH

https://x.com/Mota_licia_reum/status/2119476302260707837/photo/1

Research from my own group! Similar treatment patterns by age, but 5-year mortality diverges by age: 7.6% at age <65 31.6% at >=75 As usual, age is the #1 risk factor @RheumNow #ACR26 Ab#0192 https://t.co/KuofRSjTH9

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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

YIR: Why does RA affect PIPs and not DIPs? This study demonstrates that Joint-specific susceptibility is established embryonically: PIP jts - larger synovial vol & PI16+ fibroblasts Implications? Provides developmental exp why particular jts are affected @RheumNow #ACR26 https://t.co/easfYOl5Ee

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Importance of genetics in rheumatic diseases #ACR26 #ReviewCourse @RheumNow https://t.co/weDtEQH0Cb

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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

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

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

Article

Monogenic Inflammatory Disorders Go Unrecognized

Jack Cush, MD Oct 21, 2026

Lancet Rheumatology has published a large cohort analysis with a genome-first approach using whole exome sequencing to find 1 in 4026 prevalence (159/640092) of monogenic disorders, half with inflammatory features. Only one of these

Article

Troubles with ‘Gut Feelings’ (10.16.2026)

Jack Cush, MD Oct 16, 2026

Dr. Jack Cush reviews this week's news from RheumNow.com, including: placebo trumps controversial therapies, the dynamics of disease activity, fuse the big toe, and patients don’t appreciate being told “it's all in your head”!

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Monogenic Inflammatory Disorders Go Unrecognized

Troubles with ‘Gut Feelings’ (10.16.2026)

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