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 😃🍾🧬

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.

RT @doctorveera: Today, RGC has published an important paper in @Nature today, describing an analysis of close to a million human exomes (n….

RT @GeostatsGuy: One of my graduate students dropped by my office, exasperated, and said, "I don't know how to innovate. So, how can I do a….

RT @MotherOfPhage: Do bakers daydream about leaving their job to do a PhD in molecular biology?.

🧬 So exciting to see our preprint of #exome sequencing in critically ill adults in the @PennMedicine #BioBank picked up by the @newscientist! 🧬 . @atgcbag @Penn @PennMedBench.

RT @_anuragverma: Heading back after a fantastic week at @AMIAinformatics. It was also first conference presentation from my lab. @5inghalp….

Major thanks to @atgcbag for her tireless help with chart and variant review!!!.

Perhaps most importantly, we find dramatic and significant race- and ethnicity-based #disparities in which patients were aware of their diagnoses. #Equity in healthcare is not just ideal, it's imperative. #HealthEquity.