Discovering preclinical treatments for severe genetic conditions that impact children.
We combine disease models, imaging, behavioural analysis, and therapeutic screening to move from genetic diagnosis toward testable intervention strategies.
We develop evidence-based dietary therapies tailored to the underlying genetic and metabolic defects that cause inherited metabolic diseases. By understanding how nutrients interact with disrupted pathways, we aim to design targeted nutritional interventions that improve health and quality of life.
We identify existing drugs that can be repurposed to treat rare metabolic diseases, accelerating the path from laboratory discovery to clinical application. This strategy leverages compounds with established safety profiles to deliver faster and more cost-effective therapeutic opportunities.
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We investigate the fundamental biological mechanisms that drive inherited metabolic disorders, uncovering how genetic mutations disrupt cellular and metabolic processes. These discoveries provide the foundation for developing new therapies and improving disease diagnosis.
We create cutting-edge technologies, computational resources, and experimental models that enable researchers to study rare diseases more effectively. These tools accelerate discovery, improve reproducibility, and support the development of next-generation therapies.
Recent Johnson Lab publications. The publications page lists more work and provides links.
We build tools that help researchers select models, analyse behaviour, and move from candidate genes to experimentally tractable biology.
Behavioural analysis software for quantifying disease-relevant phenotypes from small animal imaging data.
A model-selection resource for inherited metabolic disorders, designed to help identify experimentally tractable systems.