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

Marlen C. Lauffer; Tim Yu; Annemieke Aarstma-Rus

PMC · DOI:10.1177/26330040251386869·October 18, 2025

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

Marlen C. Lauffer, Tim Yu, Annemieke Aarstma-Rus

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Abstract

Linked entities

Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.

Genes3

EP300 MFSD8 FGF3

Proteins3

Species1

Homo sapiens(human · species)

Chemicals2

oligonucleotide ASO

Diseases12

LAMM syndrome pilomatricomas genetic diseases microcephaly benign skin tumor ORCID iDs deafness neurodevelopmental disorders Rubinstein-Taybi syndrome 2 Batten's disease rare disorders of the brain and eye intellectual disability

Figures1

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Taxonomy

TopicsNeurogenetic and Muscular Disorders Research · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders