Mechanisms & therapies for rare rheumatic diseases. Chair, Gene Therapy and Vaccines (GTV) Graduate Program @CAMBUPenn @UPenn_I3H @pennmedicine @rvcl_research
United States
Joined December 2019
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Miner Lab retweeted
A $1 million donation to the OMRF will fund an endowment honoring the legacy of OMRF scientist Dr. Charles T. Esmon.
The funds will create a new endowed graduate student fellowship in cardiovascular biology at OMRF.
Read more: omrf.org/omrf-receives-1-mil…
Miner Lab retweeted
A $10M gift will accelerate the development of a new therapy aimed at treating retinal vasculopathy with cerebral leukoencephalopathy (RVCL), a rare genetic and fatal disease with no cure. @rvcl_research @miner_lab spr.ly/6013BEDbU9
Congratulations to Sam Chauvin for his successful doctoral thesis defense!
Sam worked tirelessly to define disease mechanisms and advance precision therapies for RVCL.
Sam is a 6th year MD/PhD student at Penn. Now he is returning to the final years of medical school training, with the goal of becoming a pediatric oncologist and a laboratory-based physician-scientist.
Miner Lab retweeted
Previously shared: Autoinflammatory syndromes of STING and TREX1 dysfunction: doi.org/10.1172/JCI204549
Jonathan J. Miner @miner_lab & team @PennMedicine contribute to the JCI’s Review Series: The cGAS–STING pathway: DNA sensing in health and disease, proposing a DNA-damage theory of autoimmunity and inflammation.
#cGASSTING #Autoimmunity
Miner Lab retweeted
Autoinflammatory syndromes of STING and TREX1 dysfunction: doi.org/10.1172/JCI204549
Jonathan J. Miner @miner_lab & team @PennMedicine contribute to the JCI’s Review Series: The cGAS–STING pathway: DNA sensing in health and disease, proposing a DNA-damage theory of autoimmunity and inflammation.
#cGASSTING #Autoimmunity
Miner Lab retweeted
Spectacular discovery that STING GOF mutations can strike adults:
Adult-onset STING-associated vasculopathy rupress.org/jhi/article/2/4/…
Miner Lab retweeted
STING gain-of-function has primarily been described to cause pediatric-onset disease. Here, Riley, Kotzin, @FinckAmanda, @miner_lab et al. report a surprisingly high prevalence of adult-onset #SAVI among patients with common #autoimmune disease diagnoses. hubs.la/Q04g4NGQ0
Miner Lab retweeted
🚨Paper alert from the June Lab🚨
What if the better answer to solid tumor CAR T cells lies outside the tumor itself?
(1/10)
Miner Lab retweeted
🎥 JHI’s Editor-in-Chief Jean-Laurent Casanova shares the vision behind JHI and what sets the journal apart in the rapidly evolving field of human immunity. Watch the full video and learn more about publishing in JHI here 👉 hubs.la/Q041SvK40
Miner Lab retweeted
A Tribute to Stuart A. Kornfeld (1932–2025) by Richard Steet and Richard D. Cummings: doi.org/10.1172/JCI202948
Miner Lab retweeted
The discovery of sugars, including ribose and glucose, in samples from asteroids returned by spacecraft, means “material with all three components necessary to life could have been dispersed to prebiotic Earth and other inner planets” (nucleobases and amino acids were previously reported in asteroid samples). It’s tantalizing to imagine that the molecules of life may be fairly common outside Earth, perhaps doing life-y things.
nature.com/articles/s41561-0…
Miner Lab retweeted
A patient with recessive TBK1 deficiency and lethal viral disease:
Recurrent severe viral infection in a child with inherited complete TBK1 deficiency rupress.org/jhi/article/2/1/…
Miner Lab retweeted
Today in @Nature we report a new prime editing strategy that can rescue a common cause of many genetic diseases in a disease-agnostic manner. This approach converts a redundant endogenous tRNA into an optimized suppressor tRNA, enabling a single prime edit to rescue premature stop codons across different diseases.
(1/15)
drive.google.com/file/d/1bSv…
Miner Lab retweeted
Already 53 phenomenal papers published in the @jhumimmunity ! Look it up and submit your best papers to the only journal focused on human inborn errors of immunity, their phenocopies, and related topics in human immunology:
rupress.org/jhi
Very sad to learn that Stuart Kornfeld passed away.
His commitment to rigorous basic research - in addition to his impact on physician-scientist trainees as well as patients - cannot be overstated.
Here is a classic interview with Stuart: JCI's Conversations with Giants in Medicine: Stuart Kornfeld youtu.be/CdlCnqu_9mI?feature… via @YouTube
Miner Lab retweeted
📢 Calling #gradstudents, and early-career #postdocs! Apply for the JEM Early Career Travel Award 2025 ✈️ that supports your attendance at #Cytokines2025 @cytokinesociety, this November in Seattle!
Apply by Sept. 26 👉 hubs.la/Q03yQHZS0
Miner Lab retweeted
STAT1-GOF is characterized by infections & #autoimmunity. Buddingh, Schuetz et al report overall survival after allogeneic #HSCT in an international cohort of 36 patients is 72.2%. Pre-treatment w/ JAK inhibitors is associated w/ better event-free survival hubs.la/Q03zBvNB0
