RVCL Research Center at Penn

RVCL (aka RVCL-S) is a devastating disease caused by inherited mutations in the TREX1 gene. We are working toward a cure.

[Miner Lab @miner_lab]

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.

[Brain Research Institute, Niigata Univ @ngt_nouken_eng]

🔍BRI-ef📬
Dr. Taisuke Kato received the 45th Research Grant from the Kenzo Suzuki Memorial Medical Science Applied Research Foundation!🧑‍🔬
We remain committed to advancing therapeutic strategy for intractable neurological diseases✊

[Miner Lab @miner_lab]

Supporting science with federal funding is crucial—whether a state is red or blue. Federal funding is also key for developing the next generation of scientists—keeping America competitive on the world stage.

The therapy being touted in this hearing came about because of rigorous fundamental research conducted at the Oklahoma Medical Research Foundation. @OMRF I got to see this happen first hand, and I would not have become a scientist if it weren’t for OMRF recruiting me as a young student, providing a great environment for training in rigorous basic research.

Federal funding is indispensable for life-saving research. You can’t predict the timing of new therapies and cures, but if you cut fundamental research, trainees will choose other careers, discoveries will be delayed, jobs will be lost, the economy will suffer, and cures will be significantly delayed.

[Kate Fitzgerald @FitzgeraldKate]

Save the NIH and enable the future cures that will benefit humanity as they do now and have before. #NIHsaveslives

[Penn Medicine CSO @PennMedCSO]

New research out in @CellCellPress finds that ArfGAP2 promotes STING proton channel activity, cytokine transit & autoinflammation ft. @miner_lab (@PennRheum/ @PennMicro) https://t.co/EN4Np9SqCA

[RVCL Research Center at Penn @RVCL_research]

We are on the cusp of having a personalized therapy for RVCL.

We have tools, expertise, and capabilities that the private sector simply does not have.

Now is not the time to cut our research funding, a tiny fraction of the federal budget—with huge impact. Watch this video.

[Miner Lab @miner_lab]

Cancer survivor warns against threats to health funding | CNN https://t.co/ggrolqm29r

[Cell @CellCellPress]

Now online! ArfGAP2 promotes STING proton channel activity, cytokine transit, and autoinflammation https://t.co/OYXhpNLKFy

[NCATS @ncats_nih_gov]

Although the FDA-NIH Rare Disease Day event is postponed, our commitment to the rare disease community remains strong. Thank you for your continued work raising awareness, developing cures and treatments, and offering resources that give hope to the millions of people in this country affected by rare diseases.

Stay tuned for updates on the rescheduled event. #RareDiseaseDay #RDDatFDANIH

[RVCL Research Center at Penn @RVCL_research]

Great things in the pipeline—just over the horizon…

[Miner Lab @miner_lab]

Thank you to the @jclinicalinvest for publishing this important corrigendum indicating clear disease progression in RVCL patients treated with crizanlizumab. This was key primary endpoint data, crucial for treatment decisions made by patients and their providers.

[Miner Lab @miner_lab]

Corrigendum: Crizanlizumab for retinal vasculopathy with cerebral leukoencephalopathy in a phase II clinical study

Most importantly: this drug does not halt disease progression. https://t.co/97xuHKB2JN

[Miner Lab @miner_lab]

Our prime editor gene therapy for RVCL was just published

We demonstrate that TREX1 mosaicism results in mild, organ-limited disease in humans. This is an indication that our gene therapy has strong potential as a future treatment for patients with RVCL-S https://t.co/zGFYvabN4X

[RVCL Research Center at Penn @RVCL_research]

Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy | Journal of Clinical Immunology https://t.co/f0In1K4pyq

[RVCL Research Center at Penn @RVCL_research]

Gene Therapy for RVCL: 2024 https://t.co/PPipUs1q1w via @YouTube

[RVCL Research Center at Penn @RVCL_research]

Therapies for RVCL: Incredible Progress at Penn and Michigan https://t.co/4LRIaoEsFw? @miner_lab @RVCL_research

[RVCL Research Center at Penn @RVCL_research]

Casting a light on rare disease. #IlluminationChicago @RVCL_research @miner_lab

[RVCL Research Center at Penn @RVCL_research]

Illumination Chicago was a huge success! Thank you to the Clayco Foundation and the patients and their families for supporting our efforts to develop a treatment for RVCL! ⁦⁦@RVCL_research⁩ ⁦@miner_lab⁩

[Shawn Clark @ShawnHarold]

Thank you, @GoodDayChicago, for having me on the show yesterday to talk about Illumination! Going to be a great event tomorrow night!

[Lasker Foundation @LaskerFDN]

Happy birthday to #LaskerLaureate Mario Capecchi! He was recognized for developing gene targeting in mice, a powerful technology that allows the creation of animal models of human disease. @HHMINews @UUtah https://t.co/vY0DOwPEJ9

[Miner Lab @miner_lab]

These are fruitfly eyes from our collaborators at the Brain Research Institute in Niigata, Japan. The lower image is a fruitfly with a truncated human TREX1 gene that causes RVCL. We discovered that RVCL is DNA damage syndrome associated with early-onset breast cancer in women.