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.

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