August 2024 Research Insights & Updates
The number of patients identified with RVCL has more than tripled in the last few years. The good news is that Dr. Jonathan Miner, Associate Professor of Medicine at the University of Pennsylvania, and our network of collaborators are making meaningful progress in finding a cure for RVCL. Today, we’re pleased to share an update on our website highlighting the Latest Research Insights.
We aim to continue providing regular research updates to our sponsors and supporters. Here are a few of our latest updates:
Breast Cancer Risk in Women with RVCL / RVCL-S
The latest video relates to our recent discovery that RVCL is associated with high-risk of early-onset breast cancer in women. We found that RVCL is a DNA Damage Syndrome, which means that the abnormal TREX1 protein causes injuries to chromosomes, leading to organ damage (mimicking radiation injury) and increased risk of cancer. Patients and families should be aware of this, as it may have implications for cancer screening. Please reach out to us if you have questions.
Collaboration Across Four Continents
The second video introduces you to our network of collaborators at the University of Michigan, around the United States, and also in Japan, France, Scotland, Australia, and beyond. These partners are helping us develop therapies. We also want to update that we have preliminarily confirmed that our gene therapy works in the livers of mice (after intravenous injection). We will have a long way to go, but our fruitful collaborations across four continents are creating a path toward personalized therapies:
WATCH BOTH VIDEOS HERE
Where Are We Today?
The task before us is challenging, and we cannot predict the timing. However, in just three short years, we have already achieved a great deal. We’ve managed to engineer mice to express the human TREX1 gene, and have determined a path to fix the mutation in adult mice, bringing us closer to a potential cure.
We are diligently working to develop small-molecule drugs. In collaboration with the University of Michigan, expert medicinal chemists are creating small-molecule drugs that bind the TREX1 protein and block its DNA-damaging effects. We have screened seven billion drugs and narrowed it down to a few hundred, with a lead compound already identified. We hope these drugs will eventually be taken as pills and that they will slow disease progression. The Clayco Foundation and others are accelerating this work by supporting us and engaging a contract research organization to synthesize new compounds for more rapid testing.
Our partnerships and shared goals—among patients, families, trainees, and staff in the lab, and our international collaborators—are making all of this possible.
Please get in touch with us if you need anything, and feel free to share these updates with your families and friends or anyone we might have inadvertently left off our list.