Genetics

SOCS1 Insufficiency - a Rare Inborn Error of Immunity Lancet Rheumatology has published a population study of the rare suppressor of cytokine signalling 1 (SOCS1) insufficiency - an inborn error of immunity affecting the negative regulation of cytokine and growth factor… https://t.co/I0muoIk5GL https://t.co/jbcuAZivci
Dr. John Cush @RheumNow( View Tweet )
AI,genes

Diagnoses via Immune ‘Fingerprints’

Jack Cush, MD

Science and researchers at Stanford Medicine have reported the use of Mal-ID (machine learning for immunological diagnosis) to analyze B and T cell receptors sequences from human blood, showing the ability to predict health status (healthy vs diseased) and discriminate between distinct

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Risk Prediction Modeling in MDA5 Dermatomyositis Patients with Melanoma differentiation-associated gene 5 (MDA5) positive dermatomyositis (DM) are complicated and prone to interstitial lung disease, poor prognosis, and a high mortality. A new study suggests a risk prediction… https://t.co/v20ZCVZUQE https://t.co/GmWWQDpWUU
Dr. John Cush @RheumNow( View Tweet )
SLE subphenotypes predisposed by distinct genetic risk loci. Multicenter 10 yr genotyping study on 1462 SLE pts (56% w/ lupus nephritis & 43% not LN) found significantly higher polygenic risk scores (PRS); significant LN variants included HLA, TNFAIP3, BLK, & STAT4.… https://t.co/5igpgtdE1U https://t.co/5KOXRThzlk
Dr. John Cush @RheumNow( View Tweet )
SLE subphenotypes predisposed by distinct genetic risk loci. Multicenter 10 yr genotyping study on 1462 SLE pts (56% w/ lupus nephritis & 43% not LN) found significantly higher polygenic risk scores (PRS); significant LN variants included HLA, TNFAIP3, BLK, & STAT4.… https://t.co/zvYGct9aqG https://t.co/obgkHbXNWA
Dr. John Cush @RheumNow( View Tweet )
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Weak Data (1.24.2025)

Jack Cush, MD

Dr. Jack Cush reviews the news and journal reports from RheumNow.com, and features Dr. Charity Dean, the Keynote speaker at RheumNow Live 2025, and why she is an inspiration.

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ICYMI: Sex related differences in PsA Different factors are known to influence disease characteristics and outcomes in psoriatic arthritis (PsA). Recently, there is new evidence that sex-related differences play a role not only in disease manifestations but also in efficacy and… https://t.co/60vdbWLltB https://t.co/nY1CuJhKMb
Dr. John Cush @RheumNow( View Tweet )
#CRISPR reviewed in 👇 #fibroblasts Found deletion of certain genes Ex JIA had marked change in expression Yr in Preview ACR24 @RheumNow @ACRheum Dr Chris Ritchlin 👏 https://t.co/jnmtk1eXGp

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Janet Pope @Janetbirdope( View Tweet )
Severe thrombocytopenia (TP) is rare but linked to major organ involvement and poor prognosis in #SLE. Data from the RISE registry shows TP in 9.3% of SLE patients, with higher prevalence in males, African-Americans+ those with multiple comorbidities. #ACR24 @RheumNow abst#2680

Bella Mehta @bella_mehta( View Tweet )

#Scleroderma #molecular #signatures in #skin predict long term outcomes 👇worst with inflammatory signature This may have clinical and trial applicability Nice work! Abst0711 #ACR24 @RheumNow @ACRheum https://t.co/3CFxu6bACu

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Janet Pope @Janetbirdope( View Tweet )
Study on #SLE and ESRD using machine learning: Developed model to identify patients with SLE and ESRD Used NIH 'All of Us' dataset XGBoost outperformed Random Forest SDOH data improved model precision #ACR24 @rheumnow #MachineLearning abst#1876 https://t.co/PQ7u4Pj5OH

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Bella Mehta @bella_mehta( View Tweet )
Abstract 1873: The impact of urbanization on lupus nephritis mortality is complex. Race/ethnicity + income modify the effects - Income ≥$50k + living in suburbs associated with lower odds of mortality due to LN in racial/ethnic minorities @RheumNow #ACR24

Akhil Sood MD @AkhilSoodMD( View Tweet )

Why is there female predominance in #SLE - the extra X chromosome in females (XX) may not be inactivated properly- usually maintained by the long non-coding RNA #Xist #ACR24 abst#2599 @RheumNow https://t.co/C9Qj5zSnpN

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Bella Mehta @bella_mehta( View Tweet )
Abstract 1876: Developed a machine learning model w/ #SDoH covariates to accurately identify patients with SLE and ESRD in NIH All of US dataset @RheumNow #ACR24 https://t.co/TLDSiBZZPs

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Akhil Sood MD @AkhilSoodMD( View Tweet )
A#2528 Hes1/Piezo1 Pathway - role in osteocyte response to mechanical stimulus Yoda1 - Piezo1 agonist shown to help fx healing in mice Piezo1 decrease in GIOP Basic sci research shows activation of pathway promotes mechanical stress response, decr GIOP #ACR24 @RheumNow

Eric Dein @ericdeinmd( View Tweet )

A#2530 ANA reactive CD4 cells: elevated B cell help activation in SjD Unique autoreactive T cell cluster in SSc shows CD4+ TRAIL+ IFN type I - unique to SSc Leads to decrease activation of APCs, decrease CD4 T effector fxn @RheumNow #ACR24 https://t.co/4JnA3SpVM8

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Eric Dein @ericdeinmd( View Tweet )
Now we have GWAS, we are getting polygenic risk scores for RA, and we can see what disease risks cluster with RA risk. RA genetic risk clusters with risk for: type 1 diabetes thyroiditis multiple sclerosis What draws these diseases together? #ACR24 ABST1365 @RheumNow https://t.co/28gU1nBEUG

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David Liew @drdavidliew( View Tweet )
#1689: race-neutral 🫁 function equations in SSc improve equity: 🔹 Race-specific equations underestimate disease severity in Black patients. 🔹 Switching to race-neutral reclassified 45% of Black patients to more severe, 16% of White patients to less severe @RheumNow #acr24 https://t.co/BfK2PsCMX5

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Caoilfhionn Connolly @CaoilfhionnMD( View Tweet )
#2282 🔬 Personalised Approach to TNFi in RA 📊 N=50👇; 43 responders 🔑 Findings 💥TNFR2 rs1061622 polymorphism linked to TNFi response 💥 MR/RR alleles ⬆️ 10X odds non-response v. MM allele (OR = 10.1,p=0.04) 🎯Genotyping may guide personalized RA therapy. #ACR24 @RheumNow https://t.co/MQKZUCEPxj

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Caoilfhionn Connolly @CaoilfhionnMD( View Tweet )
Navigating Positive ANA: Leveraging AI for better triage Abstract 1526: Markus et al. developed a machine learning model to predict progression to SLE, utilizing diagnoses, meds, procedures, and labs collected 2 years before and 5 years after +ANA. @RheumNow #ACR24 https://t.co/2zzSH8Pb0e

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Akhil Sood MD @AkhilSoodMD( View Tweet )
What is my risk of developing SLE? Abstract 0843 highlights a predictive model that accurately classifies SLE risk using genetics, lifestyle, and environmental factors. Model 3 (genetics + environment + lifestyle) performed the best compared to models 1 and 2. @RheumNow #ACR24 https://t.co/sk9oG0OY3W

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Akhil Sood MD @AkhilSoodMD( View Tweet )
#0066 🧬Epigenetics, Gut Microbiota & RA 🔬 110 RA patients v 110 controls 🦠 Collinsella abundance a/w DNA methylation changes (PRHOXNB, TBC1D22A) in RA, correlating with disease activity. 💡❔Role of gut microbiota & epigenetic markers as RA biomarkers #ACR24 @RheumNow https://t.co/yZn0KkRpE6

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Caoilfhionn Connolly @CaoilfhionnMD( View Tweet )
Abstr#0647 Toronto Lupus Clinic finds pericarditis in 20% of #SLE inception cohort, often with skin, heme, MSK, & renal involvement. Linked to younger age, White race, +SSB, & lower ACR/EULAR scores - Tx: GC, HCQ, AZA @RheumNow #ACR24

Akhil Sood MD @AkhilSoodMD( View Tweet )

A study in difficult-to-treat (D2T) ankylosing spondylitis (AS) reveals distinct characteristics in patients, including: - Higher BMI - Increased comorbidities - Presence of EAMs - HLA-B27 positivity is linked to higher odds of being D2T, highlighting potential genetic… https://t.co/XcShdxSwhm

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Antoni Chan MD (Prof) @synovialjoints( View Tweet )

Hypophosphatasia: 🦴Inherited disorder of metabolism with low tissue nonspecific alkaline phosphatase (TNSALP) 🦴Impaired bone mineralisation 🦴Accumulation of pyrophosphate 🦴1/100,000-300,000 🦴6 main forms @RheumNow #ACR24

Mrinalini Dey @DrMiniDey( View Tweet )

Recent Blogs

Sexist Rheumatology

Kathryn H. Dao, M.D. , Jack Cush, MD
male.female.sexist.jpg

Cush and Dao are at it again. This time it's whether men or women are better patients. Cush says men are better patients; Dao says Er, not so fast bub!  This is their light-hearted, gender biased debate on the best patients: Men vs. Women.

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