PhD researcher
Harry Wilkinson
Designed and tested novel plasmids for correcting COL4A1 mutations using CRISPR editing.
Collagen-related disorders
Understanding and correcting vascular basement membrane and connective tissue disease.
Collagen-related disorders can affect small blood vessels in the brain and other organs. This project is led by Dr Klaudia Kocsy and focuses on disease mechanisms, experimental models, and therapeutic strategies for COL4A1/COL4A2-related Gould syndrome, Ehlers-Danlos syndrome (EDS)-related connective tissue biology, and related cerebral small vessel disease.
Research focus
From vascular biology to mutation-focused correction strategies.
COL4A1 and COL4A2 encode collagen IV components of vascular basement membranes. Pathogenic variants can compromise vessel integrity and are associated with Gould syndrome and a spectrum of cerebrovascular and systemic features.
The broader collagen-related disorders space also connects to Ehlers-Danlos syndrome (EDS), where connective tissue biology, vascular fragility, and careful therapeutic testing raise overlapping translational questions.
CSVD Therapeutics supports a careful translational path: define the cellular phenotype, test candidate interventions, and build the evidence needed for credible therapeutic development.
Project leadership
Dr Klaudia Kocsy leads the collagen-related disorders therapeutic development space.
Dr Kocsy brings vascular therapeutic development expertise to this project, focusing on disease mechanisms, experimental model strategy, and the careful testing of candidate interventions for collagen-related vascular pathology.
Her work connects the biological consequences of collagen gene disruption with practical therapeutic questions: which disease readouts matter, which interventions are worth testing, and what evidence is needed before a therapeutic concept can move toward translation.
People and projects
A growing collagen-related disorders research space.
Dr Klaudia Kocsy leads this project, connecting vascular disease biology with therapeutic testing and experimental strategy for collagen-related disorders.
PhD researcher
MSc in Molecular Biology and Biotechnology
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.
