NOTCH3-related disease
CADASIL is a genetic cerebral small vessel disease with urgent therapeutic need.
CADASIL is commonly caused by pathogenic variants in the NOTCH3 gene. It affects small blood vessels in the
brain and can lead to migraine with aura, strokes, cognitive changes, mood symptoms, and progressive
disability.
Research focus
From NOTCH3 biology to testable gene-targeted therapies.
NOTCH3 pathogenic variants provide a precise biological starting point for CADASIL therapeutic research.
The project focuses on experimental systems that can test whether candidate interventions change
disease-relevant vascular readouts.
This space links software-enabled design, plasmid and vector testing, ASO concepts, and practical
translational questions around delivery, safety, and measurable benefit.
People and projects
The NOTCH3 therapeutic testing space.
Dr Favour Felix-Ilemhenbhio leads this area, with student contributions supporting experimental testing
of novel therapeutic concepts for NOTCH3-related disease.
Platform
shCREATE
shCREATE is a software platform created by Dr Favour Felix-Ilemhenbhio to support the design of small
interfering RNA (siRNA), short hairpin RNA (shRNA), and antisense oligonucleotide (ASO) tools. These
approaches can be used to reduce, redirect, or otherwise modulate RNA and protein expression, creating
opportunities to test therapeutic ideas in vitro in cell-based systems and in vivo in disease-relevant
models.
In practice, siRNA and shRNA can help researchers ask whether lowering a target transcript changes a
disease readout, while ASOs can offer a wider experimental space, including knockdown, splice modulation,
and allele-focused strategies depending on the biology of the target.
Open shCREATE
M
MSc Translational Neuroscience
Miles Morris
Contributed toward testing novel lentiviral and AAV plasmids.
A
MSc Translational Neuroscience
Alanur Ciger
Contributed toward testing antisense oligonucleotide approaches.
Family-facing science
Understanding CADASIL through genetics, symptoms, and therapeutic readiness.
This page brings together what families and collaborators need to understand: the role of NOTCH3, the
clinical features of CADASIL, and the research steps needed before a therapy can be responsibly tested.
Future additions can include diagnosis basics, symptom management, family genetics, clinical trial updates,
and questions to bring to clinicians.
