Latest Research Insights
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. View below to see the latest video updates.
Breast Cancer Risk in Women with RVCL / RVCL-S
The following relates to our recent discovery that RVCL is associated with a 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.
Recorded: July 13, 2024
Collaboration Across 4 Continents
The following will introduce you to our network of collaborators at the University of Michigan, around the United States, 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:
Recorded: July 12, 2024
March 2024 Update: Personalized Medicine for RVCL / RVCL-S
In this March 2024 RVCL update, Dr. Miner gives the latest updates on our efforts to develop personalized medicines for RVCL / RVCL-S at Penn Medicine. We strive to develop effective personalized medicines for RVCL-S, gene therapy, and a cure. Thank you to all of our collaborators, the families affected by this disease, and everyone engaged in the effort to develop treatments for this devastating disease.
Recorded: March 30, 2024
