UBA1 somatic mutations of indeterminate potential? our provocative finding in AllofUsResearch led by Robert Corty with James Brogan, Kevin Byram, MD & Peter Grayson
Vanderbilt PSTP/Harrison Society, Vanderbilt Rheumatology NIAMS

Population databases have shown very different findings related to VEXAS, reflecting selection bias. In AllofUs, 74 people with VEXAS mutations, 62 of them were female, 100% were p.Met41Leu, unclear if they have any disease phenotype. Terrific work led by Robert Corty !!!

#ACR23 need to find better way to incentivize attendance on the last half day of ACR Convergence. Turnout again pretty abysmal. Not fair to presenters of some very nice work today. End on full day or do something big at the very end.

Everyone at #ACR23 be sure and tune in to Atefeh Ghorbanzadeh’s talk this Wed showcasing our NIH NHLBI Mayo Clinic NIAMS collaboration reporting on the high rates of thrombosis (mainly #VTE ) seen in our #VEXAS cohort. acr23.eventscribe.net/searchGlobal.a…

First ever non-HLA germline genetic association identified in RP. Masters thesis work from Yiming Luo from our group at NIH. Relapsing Polychondritis Foundation Marcela Ferrada

Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study ard.bmj.com/content/early/…

#ACR23 check out Robert Corty's late breaking poster tomorrow - he has identified individuals with somatic UBA1 mutations who are resilient to VEXAS cdmcd.co/vabX8j

Full details in his preprint: medrxiv.org/content/10.110… American College of Rheumatology Vanderbilt Rheumatology Vanderbilt PSTP/Harrison Society

Marcela Ferrada is an inspiration.

She was driven to improve outcomes for relapsing polychondritis, the disease she lives with, & now she leads her field.

Truly the model of a patient-physician, always so much to learn from her.

#ACR23 Review Course Dr. John Cush R Polychondritis

Family talking this morning about the “speaker of the house” being removed. Five year old looked concerned and nervously asked, “Alexa?” 🤣🤣🤣

👆🏼 #VEXAS syndrome is believed to only affect individuals above the age of 50.

😮We describe an early-onset case in a 23 y/o 🙎🏽‍♂️ with relapsing polychondritis.

🗝️Test for UBA1 mutations🧬, regardless of age, in adults with a VEXAS clinical phenotype.

Dra. Pataki Rheumatology & Rheumatology Advances in Practice

We are looking for a #MedPeds or #pedsrheum rheumatologist interested in 1) caring for people with and 2) performing clinical research studying #sJIA #AOSD #autoinflammation to join our clinical #Stills disease team at the NIH Clinical Center in Bethesda MD #MedTwitter #chooserheum

Best part of the VEXAS project from the science perspective is the collaborations! Rheum + Heme is an amazing confluence of interests.

☘️☘️☘️☘️☘️☘️☘️

Excited to see our NIH NHLBI #BMFsm lab’s collaboration with Mayo Clinic Comprehensive Cancer Center (led by Fernanda Gutierrez-Rodrigues Bhavisha Patel Mrinal Patnaik) looking at clonal hematopoeisis in #VEXAS out in Blood Journal ! ashpublications.org/blood/article-… 1/3 👇

Excellent perspective from Marcela Ferrada rheumnow.com/news/how-being…

Super fun to be on the Pabst Blue Ribbon panel this year.

Remembering Prof Justin Mason. Obituary published in Indian Journal Of Rheumatology
journals.lww.com/IJRU/pages/cur…