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 😃🍾🧬

🔗 Check out the full paper:. 📢 Read the Science coverage:. 💙 Excited to keep pushing this conversation forward!.

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.

We’re super grateful to see our work amplified by @ScienceNews , which covered our study’s implications for ICU practice, surprisingly high diagnostic rate, and what must change for genetic testing to help more adults. 📰 Read the feature:.

Our study also uncovered concerning disparities: Black patients were significantly less likely than White patients to be aware of their genetic diagnosis, and this was linked to higher mortality rate, potentially contributing to worse ICU outcomes for Black patients.

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.

#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:

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! 🧬🏥.

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!.

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.

Importantly, only about half of these patients have features of #Neurofibromatosis on exam. However, even in the absence of Neurofibromatosis features, patients with #NF1 pathogenic variants (the PV-Only group) were found to have a 50% increased odds of having a #cancer diagnosis.

This was a mega-collaboration using data from the @PennMedicine @ThePMBioBank, @ResearchAoU, @uk_biobank @NateraGenetics, @AmbryGenetics to assemble a cohort of over 1 million patients, finding nearly 1 in 1,000 have a pathogenic NF1 variant.

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.

For anyone who hasn’t made the jump yet, leave this truth- and decency-forsaken platform behind and join me (@tdrivas.bsky.social) at @bluesky!.

RT @CircAHA: MTSS1 may have a cardioprotective effect against diabetic cardiomyopathy in women, but not men, suggesting a biological basis….

RT @MichaelPHart1: New paper ALERT!! @MaraCowen discovered and defined how conserved autism-associated genes modify a 'social' behavior in….

Did the city remove them? If so, why? What’s the city’s plan for all the garbage that litters the streets at 22nd and South?.

Nothing about this says “Cleaning and Greening,” @PhillyMayor @PPD17Dist @FitlerNeighbors @phillyccra @PhiladelphiaGov @PhillySOSNA @CouncilmemberKJ.

21 yo with no PMH develops acute heart failure, progresses to transplant. Post-transplant has new skeletal myopathy, now wheelchair-bound. We recommend exome+mito. Denied. Peer-to-peer: "this isn't an unusual presentation." Just another day in the US healthcare system.

And an even huger thanks to @atgcbag for all her tireless work on the project!.

🧬 Huge thanks to the @NIH’s @NHGRI CPHR for inviting me to share our work on #exome sequencing in #ICU admitted adults at @PennMedicine, the super high diagnostic rate, and racial #disparities we uncovered. Check it out here: #genetics #precisionhealth.