Theodore G. Drivas 🏳️‍🌈

Physician Scientist, Adult Medicine-Trained Clinical Geneticist, and Cilium Enthusiast at the University of Pennsylvania. Moving to @tdrivas.bsky.social

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

Well, twitter friends, it's official: I'm staying in academia and in Philly, starting as a #newPI on the tenure track in @PennMedicine's Department of Medicine, Division of Translational #Medicine and Human #Genetics 😃🍾🧬

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

@CharlesLourenco @TheACMG That might be stop #2 tomorrow!

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

Queer folks at @TheACMG — let’s get together! 🌈🧬 #ACMGMtg26

A chance for community, mentorship, and fun during the meeting:

Tonight (Thu) 7:30 PM: The Owl Bar

Tomorrow (Fri) 7:30 PM: Leon’s Backroom Bar
2-for-1 drinks + Drag Race viewing

Hope to see you there!

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

Leon’s Backroom Bar:
https://t.co/HwKLJ6omwd

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

The Owl Bar (at the Belvedere Hotel):
https://t.co/jKDTaUyhSJ

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

On tap: discussion of exome/genome coverage in adults, cancer MRI screening, adult mito workup, PRSs, ideas for future SIG events, and great conversation and connection making! 🧬

#MedicalGenetics #AdultGenetics #ClinicalGenetics @TheACMG

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

👋 Adult genetics folks at #ACMGMtg26 — don't miss the Adult Genetics SIG meeting TODAY!

📅 March 10 | 5:15–6:15 PM
📍 BCC, Room 337-338

If you care for adult patients, want to connect with providers who do, or are a trainee curious about adult genetics careers — come join us!

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

We built the first practice-level map of adult genomic medicine, showing high yield (>30% for exome!), rising demand & a clear need for updated guidelines to ensure testing is accessible, reimbursable, and routine.
Preprint 👉 https://t.co/fQyaLgbiQU

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

🧬 Thrilled to be at #ASHG2025 with my students Ekta Singh & Yunjun Kang who are sharing incredible science out of our lab on #cilia, #metabolism, #genetics & #MachineLearning - and to present my own new clinical data on #AdultGenetics. Come say hi!

#ASHG #genetics #genomics

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

🏥Wed (Poster 3010W) - I’ll present our clinical work on how #AdultGenetics care is organized and delivered in over 8,000 adult patient visits over 8 years. We chart referral patterns, testing use & outcomes across indications, revealing how #PrecisionMedicine is practiced today.

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

🔗 Check out the full paper:
https://t.co/NYbWkFXz46
📢 Read the Science coverage:
https://t.co/gFjrJzSNgf
💙 Excited to keep pushing this conversation forward!

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

Key finding: Nearly 1 in 4 critically ill young adults age 18-40 had a genetic diagnosis directly related to their illness; half of these diagnoses were unknown to the patients or their doctors. This is a wake-up call for how we think about genetic disease in adult medicine.

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

Huge thanks to our amazing team, patients, and families who made this possible. We hope these data inform broader conversations about when and for whom genetic testing should be routine — not just for children, but for adults too.

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

#genetic testing can reveal life-altering diagnoses; but it’s rarely offered to adults in the #ICU. We asked: How often do genetic conditions underlie adult critical illness? What do these findings mean for patient care and #disparities?

📄 AJHG: https://t.co/NYbWkFXz46

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

Thrilled to share that our latest study on genetic testing in critically ill adults at @PennMedicine is now published in The American Journal of Human Genetics (@AJHGNews) -- and was featured in @ScienceNews! 🧬🏥

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

This project taught me: (1) rare genetic variants are surprisingly common and affect risk for common diseases like breast cancer (2) mosaicism is important and we need to be paying more attention to it as a research community (3) collaborations introduce you to fantastic people!

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

Patience, collaboration, and perseverance pay off! Our investigation of the population prevalence of NF1 pathogenic variants is out today in @NatureComms! We find these variants are much more common than anticipated and confer increased risk for cancer.

[Penn Medicine @PennMedicine]

A new study led by @TDrivas and @KLNathanson finds a genetic condition, NF1, is way more common than thought—1 in 1,286 people have it, not 1 in 3,000. https://t.co/EId3LY9mZp

[Theodore G. Drivas 🏳️‍🌈 @TDrivas]

Much of this can be explained by somatic #mosaicism in the PV-Only group; our data suggest that many of these patients only have their NF1 variant in some of their cells. This might explain why they lack Neurofibromatosis features, but still carry an increased cancer risk.