# Individualized therapy development for rare diseases: individualized at every step of the way

**Authors:** Marlen C. Lauffer, Tim Yu, Annemieke Aarstma-Rus

PMC · DOI: 10.1177/26330040251386869 · 2025-10-18

## Full-text entities

- **Genes:** EP300 (EP300 lysine acetyltransferase) [NCBI Gene 2033] {aka KAT3B, MKHK2, RSTS2, p300}, MFSD8 (major facilitator superfamily domain containing 8) [NCBI Gene 256471] {aka CCMD, CLN7, SLC74A1}, FGF3 (fibroblast growth factor 3) [NCBI Gene 2248] {aka HBGF-3, INT2}
- **Diseases:** LAMM syndrome (MESH:C565195), pilomatricomas (MESH:D018296), genetic diseases (MESH:D030342), microcephaly (MESH:D008831), benign skin tumor (MESH:D012878), ORCID iDs (MESH:C535742), deafness (MESH:D003638), neurodevelopmental disorders (MESH:D002658), Rubinstein-Taybi syndrome 2 (MESH:D012415), Batten's disease (MESH:D009472), rare disorders of the brain and eye (MESH:D035583), intellectual disability (MESH:D008607)
- **Chemicals:** oligonucleotide (MESH:D009841), ASO (MESH:D016376)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12547107/full.md

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Source: https://tomesphere.com/paper/PMC12547107