What’s special about September 30th? It’s the day we will choose our top candidate compound for subsequent toxicology—and hopefully this leads to our first Phase I trial of a personalized TREX1-targeted drug to treat RVCL.

Coming soon: more good news. Actually, GREAT news. A little more to do before a formal announcement. Please stay tuned.

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.

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 University of Utah ow.ly/lwKB50KH2Ez

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

Therapies for RVCL: Incredible Progress at Penn and Michigan youtu.be/UsXEeK2Sb60? Miner Lab RVCL Research Center at Penn

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

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

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…

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/…

Thank you to the Journal of Clinical Investigation 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.

Great things in the pipeline—just over the horizon…

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

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

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.

New research out in Cell finds that ArfGAP2 promotes STING proton channel activity, cytokine transit & autoinflammation ft. Miner Lab (PennRheum/ Penn Microbiology) tinyurl.com/ycxf6stn

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

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