Article
Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases.
Genome medicine - 26 Jun 2026
Schilder Brian M, Murphy Kitty B, Dash Hiranyamaya, Zhang Yichun, Gordon-Smith Robert, Chapman Jai, Otani Momoko, Skene Nathan G
Abstract excerpt
BACKGROUND: Rare diseases (RDs) are a highly heterogeneous and underserved group of conditions. Most RDs have a strong genetic basis but their causal pathophysiological mechanisms remain poorly understood, limiting the development of targeted therapies. METHODS: We systematically characterised the cell type-specific mechanisms underlying all genetically defined RD phenotypes by integrating the Human Phenotype...
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