RVCL Research Center at Penn

A $10M gift from the Clayco Foundation will accelerate the development of a new therapy for RVCL, a rare, fatal disease with no cure ft. @miner_lab (@PennRheum) & @FinckAmanda (@RVCL_research) @UPenn_I3H tinyurl.com/yeyve4fy

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.

🔍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✊

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.

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

New research out in @CellCellPress finds that ArfGAP2 promotes STING proton channel activity, cytokine transit & autoinflammation ft. @miner_lab (@PennRheum/ @PennMicro) tinyurl.com/ycxf6stn

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.

Now online! ArfGAP2 promotes STING proton channel activity, cytokine transit, and autoinflammation dlvr.it/TJGZPh

Great things in the pipeline—just over the horizon…

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.

Corrigendum: Crizanlizumab for retinal vasculopathy with cerebral leukoencephalopathy in a phase II clinical study Most importantly: this drug does not halt disease progression. jci.org/articles/view/…

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 link.springer.com/article/10.100…

Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy | Journal of Clinical Immunology link.springer.com/article/10.100…

Gene Therapy for RVCL: 2024 youtu.be/zq9tyBsWkRE?fe… via @YouTube

Therapies for RVCL: Incredible Progress at Penn and Michigan youtu.be/UsXEeK2Sb60? @miner_lab @RVCL_research

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

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

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