News

The Journal of Clinical Investigation

Autoinflammatory syndromes of STING and TREX1 dysfunction

Breakthroughs in rare genetic disease research elucidate the relationships among cytosolic DNA sensing, genome instability, and autoimmune disease phenotypes.

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.

Rare Disease’s DNA-Damaging Mutation Could Have Consequences for More Common Conditions

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 have furthered their understanding of…

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.…

Netosis – Is it a cause of RVCL?

Experiments have now demonstrated that neutrophils from RVCL patients are less prone to Netosis (via spontaneous measure or by stimulation), and follow-up studies concluded that Netosis is not related to the pathology or severity of RVCL.

Exploring RVCL-Mutated TREX1 Activities in the Nucleus of Cells

Exploring RVCL-Mutated TREX1 Activities in the Nucleus of Cells: Interplay with Nuclear Envelope (NE) Rupture, DNA Damage & Innate Immune Sensors The pathology in RVCL is speculated to stem from…

Developing a Microfluidic Model of RVCL

Developing a microfluidic model of RVCL Dr. David Hunt, M.D., Ph.D. Retinal vasculopathy with cerebral leukoencephalopathy (RVCL) is a devastating and untreatable systemic monogenic microangiopathy caused by frameshift mutations in…

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…

Using Drosophila Genetics and Optical Coherence Tomography to Advance RVCL Research

Using Drosophila Genetics and Optical Coherence Tomography to Advance RVCL Research Retinal vasculopathy with cerebral leukoencephalopathy (RVCL) is a rare genetic disorder that manifests mainly in middle age individuals; in…

Retinal Multimodal Imaging in RVCL

Retinal multimodal imaging in RVCL Dr. Rajendra Apte, M.D., Ph.D. Retinal vasculopathy with cerebral leukoencephalopathy (RVCL) is a rare autosomal dominant vascular dementia and retinopathy. Histologically. RVCL causes a disease…

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…

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…