Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine

被引：0

作者：

Coulombe, Benoit ^{[1
,2
]}

Chapleau, Alexandra ^{[3
,4
,5
]}

Macintosh, Julia ^{[3
,4
]}

Durcan, Thomas M. ^{[5
]}

Poitras, Christian ^{[1
]}

Moursli, Yena A. ^{[1
]}

Faubert, Denis ^{[6
]}

Pinard, Maxime ^{[1
]}

Bernard, Genevieve ^{[3
,4
,7
]}

机构：

[1] Inst Rech Clin Montreal, Translat Prote Lab, Montreal, PQ H2W 1R7, Canada

[2] Univ Montreal, Dept Biochem & Mol Med, Montreal, PQ H3T 1J4, Canada

[3] McGill Univ, Dept Neurol & Neurosurg, Pediat & Human Genet, Montreal, PQ H9X 3V9, Canada

[4] McGill Univ, Child Hlth & Human Dev Program, Res Inst, Hlth Ctr, Montreal, PQ H4A 3J1, Canada

[5] McGill Univ, Neuros Early Drug Discovery Unit EDDU, Montreal, PQ H9X 3V9, Canada

[6] Inst Rech Clin Montreal, Mass Spectrometry & Prote Platform, Montreal, PQ H2W 1R7, Canada

[7] McGill Univ, Dept Specialized Med, Div Med Genet, Hlth Ctr, Montreal, PQ H4A 3J1, Canada

来源：

BIOMOLECULES | 2024年 / 14卷 / 07期

基金：

加拿大健康研究院;

关键词：

cell-based interception and precision medicine; leukodystrophy; POLR3-related leukodystrophy (POLR3-HLD); proteomics; single-cell technologies; SCoPE2-MS; induced pluripotent stem cells; MASS-SPECTROMETRY; POL III; MUTATIONS; HETEROGENEITY; PROTEOME; SUBUNIT; STEM;

D O I：

10.3390/biom14070857

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Cell-based interception and precision medicine is a novel approach aimed at improving healthcare through the early detection and treatment of diseased cells. Here, we describe our recent progress towards developing cell-based interception and precision medicine to detect, understand, and advance the development of novel therapeutic approaches through a single-cell omics and drug screening platform, as part of a multi-laboratory collaborative effort, for a group of neurodegenerative disorders named leukodystrophies. Our strategy aims at the identification of diseased cells as early as possible to intercept progression of the disease prior to severe clinical impairment and irreversible tissue damage.

引用

页数：11

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