Drug Repurposing in Rare Diseases: An Integrative Study of Drug Screening and Transcriptomic Analysis in Nephropathic Cystinosis.
Int J Mol Sci
; 22(23)2021 Nov 27.
Article
em En
| MEDLINE
| ID: mdl-34884638
ABSTRACT
Diagnosis and cure for rare diseases represent a great challenge for the scientific community who often comes up against the complexity and heterogeneity of clinical picture associated to a high cost and time-consuming drug development processes. Here we show a drug repurposing strategy applied to nephropathic cystinosis, a rare inherited disorder belonging to the lysosomal storage diseases. This approach consists in combining mechanism-based and cell-based screenings, coupled with an affordable computational analysis, which could result very useful to predict therapeutic responses at both molecular and system levels. Then, we identified potential drugs and metabolic pathways relevant for the pathophysiology of nephropathic cystinosis by comparing gene-expression signature of drugs that share common mechanisms of action or that involve similar pathways with the disease gene-expression signature achieved with RNA-seq.
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Base de dados:
MEDLINE
Assunto principal:
Cistinose
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Sistemas de Transporte de Aminoácidos Neutros
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Doenças Raras
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Reposicionamento de Medicamentos
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Nefropatias
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Itália