Physician Scientist, Adult Medicine-Trained Clinical Geneticist, and Cilium Enthusiast at the University of Pennsylvania. Moving to @tdrivas.bsky.social
Joined August 2020
- Tweets 292
- Following 522
- Followers 895
- Likes 638
50 Photos and videos
Pinned Tweet
9 Jan 2023
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 ππΎπ§¬
23
7
259
34,230
Queer folks at @TheACMG β letβs get together! π𧬠#ACMGMtg26
A chance for community, mentorship, and fun during the meeting:
Tonight (Thu) 7:30 PM: The Owl Bar
Tomorrow (Fri) 7:30 PM: Leonβs Backroom Bar
2-for-1 drinks Drag Race viewing
Hope to see you there!
2
282
The Owl Bar (at the Belvedere Hotel):
maps.app.goo.gl/oN6DEgSTG5Rvβ¦
1
92
Leonβs Backroom Bar:
maps.app.goo.gl/6eDavR4xQWP7β¦
74
π Adult genetics folks at #ACMGMtg26 β don't miss the Adult Genetics SIG meeting TODAY!
π
March 10 | 5:15β6:15 PM
π 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 β come join us!
1
171
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! π§¬
#MedicalGenetics #AdultGenetics #ClinicalGenetics @TheACMG
86
13 Oct 2025
𧬠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
1
1
221
13 Oct 2025
π₯Wed (Poster 3010W) - Iβll 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.
1
85
13 Oct 2025
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 π bit.ly/3L9euh9
85
11 Jul 2025
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.
2
1
6
148
11 Jul 2025
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 β not just for children, but for adults too.
1
3
110
11 Jul 2025
π Check out the full paper:
cell.com/ajhg/fulltext/S0002β¦
π’ Read the Science coverage:
science.org/content/article/β¦
π Excited to keep pushing this conversation forward!
1
4
118
11 Jul 2025
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! π§¬π₯
1
1
8
476
11 Jul 2025
#genetic testing can reveal life-altering diagnoses; but itβs 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?
π AJHG: cell.com/ajhg/fulltext/S0002β¦
1
1
4
112
2 Apr 2025
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.
1 Apr 2025
A new study led by @TDrivas and @KLNathanson finds a genetic condition, NF1, is way more common than thoughtβ1 in 1,286 people have it, not 1 in 3,000. spr.ly/6016FnHu0
1
1
208
2 Apr 2025
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.
1
101
2 Apr 2025
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!
85