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In Genetic Disorders, One Size Does Not Fit All
Author(s) -
Wohlberg Christopher J.
Publication year - 2020
Publication title -
clinical pharmacology and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.941
H-Index - 188
eISSN - 1532-6535
pISSN - 0009-9236
DOI - 10.1002/cpt.1851
Subject(s) - ataxia telangiectasia , induced pluripotent stem cell , phenotype , ataxia , drug development , medicine , genetic heterogeneity , drug , bioinformatics , biology , genetics , psychiatry , gene , dna , embryonic stem cell , dna damage
In drug development, preclinical studies often do not predict human benefit. Why not, then, go right to the source—patients with rare diseases and, more importantly, with specific various genetic mutations that, in aggregate, define the phenotypic clinical disorder? In this issue, Genova et al . describe how induced pluripotent stem cells from patients with two genetic disorders (ataxia‐telangiectasia and Aicardi‐Goutières syndrome) can be used to better predict responses to immunosuppressive therapy.