The New York Times: We Can Cure Disease by Editing a Person’s DNA. Why Aren’t We?
Earlier this year, the RVCL.org team published an update that provided a brief overview on how the discovery and use of CRISPR-Cas technology can be helpful in treating different diseases. Furthermore, the post hypothesized how CRISPR-Cas could be utilized to repair the mutant TREX1 and restore RVCL patients to a healthy stature. The first person to be gene-edited with [...]
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 [...]
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 aging as the body knows it and could cause significant problems. Studies have [...]
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 Netherlands. And though a mouthful of a title, this publication adds to our knowledge base about RVCL and, importantly, [...]
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 continual care. The costs can add up from doctor visits, lab tests, blood work, related travel, and beyond. [...]
Can Correcting the TREX1 Mutation Reverse RVCL?
Genetic mutation leading to disease is not a new discovery or phenomenon, and many have heard of such afflictions as Down Syndrome, Cystic Fibrosis, and Huntington’s Disease to name a few. And though RVCL is far rarer, it too is a disease caused by aberrant mutations in the patient’s genetic signature. Specifically, it is typically caused by a random mutation in [...]