RVCL

Jonathan Miner, Kate M. Jones, and Samuel D. Chauvin, have co-authored a new article in Frontiers in Aging.

Dr. Miner and the team's latest research shows that DNA damage can make cells age before their time. In RVCL, a mutated gene disrupts cells’ normal DNA, causing them to age and stop functioning much earlier than they should – making this rare disease a powerful model for studying how accumulated DNA damage drives premature aging.

Thanks to these findings, we’re closer than ever to a cure for RVCL. It’s a hopeful step forward that shows how studying this rare disease can reveal clues to fight the effects of aging.

Visit RVCL.org to read the article and browse all of the Center’s published research, or to make a contribution to support these vital research efforts.

A major milestone in personalized medicine: doctors successfully used gene editing to treat a single patient with a rare genetic disorder — and it worked. This first-of-its-kind result, featured in The New York Times, is a powerful reminder that precision therapies for rare diseases are no longer science fiction.

This breakthrough reinforces our partnership with the University of Pennsylvania Perelman School of Medicine. Penn has created a powerful ecosystem of top scientists ready to solve today’s most complex rare diseases, and this story is a great example of the work taking place at the University.

The Clayco Foundation is working with Dr. Jonathan Miner to create custom therapies for RVCL patients. Our current focus is on drug delivery and safely delivering these gene-editing tools to the blood vessel walls and other affected organs.

This scientific milestone inspires us, and we encourage you to read the article and visit RVCL.org to learn more about how personalized medicine can give patients new hope.

Read the New York Times article at: https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html

Baby Is Healed With World’s First Personalized Gene-Editing Treatment The technique used on a 9½-month-old boy with a rare condition has the potential to help people with thousands of other uncommon genetic diseases.

Jonathan Miner, MD, PhD, and his research team at the University of Pennsylvania Perelman School of Medicine and the Brain Research Institute at Niigata University | 新潟大学 have furthered their understanding of RVCL.

While it was already known that a mutation in TREX1 was behind RVCL, the mechanism by which it did its damage was not known. A new study published in Nature Portfolio highlights that TREX1 speeds up the typical process of DNA damage—a process some theorize is tied to every animal’s aging process—the researchers may not have only discovered the weapon TREX1 uses on RVCL patients but also offered insight beyond this population.

Studying RVCL models in animal and human cells, Miner and his colleagues explored their hypothesis that the TREX1 mutation, which shortens the gene, was causing instability within cells and damage that appears similar to breakdowns seen in radiation injuries.

They found that the mutation was interfering with a DNA repair process, which occurs when there is a break in both strands of DNA. This interruption of the process allowed DNA to be deleted, and cells prematurely aged and stopped dividing, which leads to overall premature aging and organ damage.

The study’s findings provide a clearer picture for the types of treatments and medicines that could be pursued for people with RVCL. They could involve lowering levels of TREX1 in the body, correcting the mutation, or just blocking the gene’s DNA-damaging effects.

This is a hopeful development for those living with RVCL and offers a glimpse into the future of aging research. You can read the complete update here: https://www.pennmedicine.org/news/news-releases/2024/june/rare-diseases-mutation-may-impact-more-common-conditions

Rare Disease's Mutation Could Explain More Common Conditions New research shows that when people are born with mutated TREX1, it causes catastrophic damage to the DNA over time, resulting in a deadly rare disease called retinal vasculopathy with cerebral leukoencephalopathy.

RVCL Blog Post: Netosis – Is it a cause of RVCL?

Netosis is the act of neutrophils “shooting out” their DNA and histones as a ‘web-like’ structure usually, to catch bacteria. These Neutrophil Extracellular Traps, or NETS, are quite bactericidal and inflammatory, and improperly controlled Netosis has been linked to various disorders such as Cystic Fibrosis and Covid. A reasonable hypothesis would stipulate that erroneous NET formation may be involved in initiating or exacerbating RVCL.

Read to the complete blog post at RVCL: http://ow.ly/JQPz50LyHto

Cellular Senescence is the phenomenon in which cells permanently arrest (a.k.a. cell growth ceases), which is a normal aging mechanism. While the lack of cellular senescence may at first glance seem a boon to anti-aging efforts, the lack of these signals and this pathway would interfere with healthy aging as the body knows it and could cause significant problems.

You can read our latest blog post, which summarizes this study, by clicking below.

The Phenomenon That is Cellular Senescence Cellular Senescence is the phenomenon in which cells permanently arrest (a.k.a. cell growth ceases), which is a normal aging mechanism. While the lack of cellular senescence may at first glance seem a boon to anti-aging efforts, the lack of these signals and this pathway would interfere with healthy...

In a recent , Optical Coherence Tomograph (OCT) was used to analyze multiple retinal layers of patients (TREX1 mutation) compared to the control - healthy individuals. OCT provides a noninvasive cross-sectional visualization of optic disc and macula, and a difference was observed in this study. Because several organs are affected in RVCL, including the eyes, analyzing retinal anatomy has become increasingly used as a biomarker for earlier diagnosis.

You can read our latest blog post, which summarizes this study, by clicking below.

Optical Coherence Tomograph Study Used to Analyze Retinal Layers of RVCL Patients Earlier this year, the publication Spectral Domain Optical Coherence Tomography in Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations: A Monogenic Small Vessel Disease came out in the Journal of Neuro-Ophthalmology by Dr. Irene de Boer in the Terwindt lab in the Nethe...

Over the past year, The Clayco Foundation has been diligent about supporting research and clinical efforts related to furthering RVCL understanding and the path towards treatment. This includes funding academic researchers and supporting families dealing with the realities of an RVCL diagnosis and continual care. Read our latest blog post by clicking below, and reach out to us today if you or someone you know is dealing with RVCL.

The Foundation in Action Over the past year, The Clayco Foundation has been diligent about supporting research and clinical efforts related to furthering RVCL understanding and the path towards treatment. This includes funding academic researchers and supporting families dealing with the realities of an RVCL diagnosis and c...

Don’t miss out on your chance to purchase Illumination Early Bird tickets – on sale now through August 31st!

We’re back for our 6th annual event on Saturday, October 29th at Vertiport Chicago | Vertiport Global. Join us for an incredible evening of art, celebration, and fundraising for RVCL and other rare disease research.

We hope to see you there!

Purchase your tickets here: http://ow.ly/mbEM50KeT2Y

Underlying the RVCL disorder is a frame-shift mutation in the transmembrane region of the TREX1 gene. What does this mean?

1. RVCL is caused by a genetic mutation
2. RVCL is caused by a genetic mutation in a single gene (TREX1)
3. This genetic mutation causes the TREX1 protein (encoded by the gene) to become “free-floating,” rather than appropriately tethered.

Therefore, the disease could theoretically be addressed by reversing or fixing this genetic mutation. However, genetic manipulations have typically been restricted by what scientists can do to cells outside the body. Advances in recent years are beginning to overcome this barrier and are leading us to a completely new era of being able to treat…and even cure…genetic disorders. Can Correcting the TREX1 Mutation Reverse RVCL?

Read our recent blog post here:
http://ow.ly/ZG5K50K3x8N

Though RVCL is a rare disorder, we are working hard to make it a solvable one. Just recently, our team has seen several exciting advancements to finding a cure for RVCL. Being involved with so many exciting advancements fuels our optimism of upcoming successes, and we invite you to support our efforts.

Stay connected with our latest progress by visiting http://ow.ly/sKWm50J6crZ

As The Clayco Foundation continues to propel RVCL research and patient-focused efforts, we want to take a second and highlight a very exciting research project spearheaded by Dr. Zhou at Washington University in St. Louis. Dr. Zhou is a distinguished professor in the Department of Biomedical Engineering, and has numerous publications, grants, and editorial positions to his name.

Read more about the phenomenal work Dr. Zhou is doing to support our search to cure RVCL: http://ow.ly/exKO50IH262