🚨 VEXAS Syndrome Unveiled: Joint Bone Spine 2024 Update! 🚨 •🌟 What’s VEXAS? A rare autoinflammatory beast (Vacuoles, E1 Enzyme, X-linked, Somatic) hitting mostly men over 50, tied to UBA1 gene mutations! •⚠️ Cause: Somatic UBA1 glitches mess up ubiquitination, sparking

🌞 Summer’s here — and so are lots of fun ways to connect with the #RareDisease community! From conferences to community gatherings, there’s lots happening. 📅 Explore: lnkd.in/gPdDKcka 📣 Have an event? Let us know: lnkd.in/dSPQKX2e #Canada4Rare #Canada4Rare

The paper ‘Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes’ is available Open Access from this link 👇🏼 nature.com/articles/s4158…

One theme of non-coding findings that I like is non-coding mutations in regulatory elements having effect as severe as deleting the gene itself. Here is a nice example of a Mendelian disease caused by haploinsufficiency due to deletion of a regulatory element: Axenfeld-Rieger

Comparing 27 newborn genomic sequencing programs showed high variability in genes included. Only 74 genes were included by >80% of programs. Machine learning model ranked 4,390 genes for NBSeq, a step toward smarter, more consistent gene selection. bit.ly/4jNx3n1

🚀 AI is reshaping clinical genetics! This latest review by Duong & Solomon outlines how machine learning, deep learning, and generative AI are transforming diagnostics, management, lab workflows, and administrative processes 🔗 Open-access review👇 nature.com/articles/s4143…

🚨 Publication Alert! 🚨 Our first official manuscript is live in BMJ Open! 🎉 📝 Protocol for the development of a core outcome set for T1D risk screening This publication is a key step toward standardizing outcomes in #T1D research. 🔗 bmjopen.bmj.com/content/15/6/e…

New from Shanghai'd, MAGA, Truth Seeker, WWG1WGA, CanScreen T1D Research Consortium and GENOMETRICS, A Protocol for the Development of a Core Outcome Set for Type 1 Diabetes Risk Screening, published in BMJ_Open! This work aims to improve the standardisation of T1D outcome reporting and measurement! bmjopen.bmj.com/content/15/6/e…

All babies to have DNA mapped in bid to 'leapfrog' illnesses, under new government plans itv.com/news/2025-06-2…

“Real equity works to disrupt power. It requires redistributing resources, amplifying marginalized voices, and reimagining who holds knowledge.” Hear how our EDI-DI team goes “beyond the checkbox” to operationalize health equity in research design: vimeo.com/showcase/11717… #NIPD

Agentic A.I. vs experienced physicians for diagnosis of > 300 complex diagnostic cases: 4-fold higher accuracy and 20% lower cost arxiv.org/abs/2506.22405 Harsha Nori Chris Kelly Dominic King Mustafa Suleyman Eric Horvitz

🏳️‍🌈 As #PrideMonth ends, we honour 2SLGBTQIA+ voices in the #RareDisease community. Your stories, strength & advocacy matter. Inclusion means access to safe, affirming care for all. Read this moving piece on lived experience & resilience: tinyurl.com/j9jrs5m2

🍁Happy Canada Day from CRDN! Today, we celebrate the strength, diversity & compassion of our communities. Over 3M people in Canada live with #RareDiseases — today & every day, we stand with them in building a future of better care, equity & innovation. #CanadaDay

Lessons learned from negative results: No genetic causes found from a large cohort (N=149) of cases w/sporadic #MoebiusSyndrome, suggesting roles for environmental factors, somatic variants, or complex inheritance. bit.ly/4jYDsLS #GIMO #CongenitalFacialWeakness

🚨 Calling Indigenous youth leaders! CanScreen T1D is building a pilot Type 1 diabetes risk screening program for kids in Canada, and we need your voice. Join our Youth Advisory Council and help shape a culturally safe program led by and for Indigenous communities. Learn more 👇

Celebrating getting a promotion to clinical associate professor U Calgary - feels like a good recognition of the hard work put in over my first 4 years of faculty position. Also finally got my grant funding in place to secure the next 4 years! #Academia #professor

Severe axonal neuropathy post infection - could be a monogenic cause as this new lancet paper out of Manchester UK details a cohort with RCC1 variants! thelancet.com/journals/laneu… #genechat #immunehealth #raredisease

A monumental Review ! IKZF-associated inborn errors of immunity rupress.org/jhi/article/1/…