Harry Wilkinson
Designed and tested novel plasmids for correcting COL4A1 mutations using CRISPR editing.
COL4A1-related disease
Understanding and correcting vascular basement membrane disease.
COL4A1-related disorders can affect small blood vessels in the brain and other organs. The project is led by Dr Klaudia Kocsy and focuses on disease mechanisms, experimental models, and therapeutic strategies for COL4A1-related cerebral small vessel disease.
Research focus
From vascular biology to mutation-focused correction strategies.
COL4A1 encodes a collagen IV component of vascular basement membranes. Pathogenic variants can compromise vessel integrity and are associated with a spectrum of cerebrovascular and systemic features.
CSVD Therapeutics supports a careful translational path: define the cellular phenotype, test candidate interventions, and build the evidence needed for credible therapeutic development.
People and projects
A growing COL4A1 research space.
Kieran PJ Cawley
Contributed to COL4A1 correction work.
Zuzanna Sokolowska
Tested drug repurposing approaches in COL4A1 disorders.
Dragos Mihai Margarint
Co-tested COL4A1 correction strategies using CRISPR editing.
Luke F Bolger
Tested drug repurposing approaches in COL4A1 disorders.
