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DYS_FUNCTION SIGNED

Novel use of exon skipping technology to study structure-function relationship of dystrophin

Total Cost €

EC-Contrib. €

Partnership

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Outcomes and
results

DYS_FUNCTION project word cloud

Explore the words cloud of the DYS_FUNCTION project. It provides you a very rough idea of what is the project "DYS_FUNCTION" about.

proteins muscular mediated functional oligonucleotide skipping expression screen select vivo limb diaphragm shorter prognosis reading uk antisense applicable dystrophins cardiac lack stems frame trampoline trial sampled induce fundamental benefit leads heart serve dystrophy unparalleled question create pathology worth muscle chemistry treatment domains predict restore benefits ambulation patients exons skeletal muscles generate critical made exon efficiency leader world histological dystrophin 51 function parallel duchenne respiratory clinical encoded biochemically undergoing dmd stable mouse skipped cardio 83 mrna models stability

Project "DYS_FUNCTION" data sheet

The following table provides information about the project.

Coordinator	UNIVERSITY COLLEGE LONDON Organization address address: GOWER STREET city: London postcode: WC1E 6BT website: http://www.ucl.ac.uk contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.
Coordinator Country	United Kingdom [UK]
Project website	http://www.ucl.ac.uk/ich/research/developmental-neurosciences/molecular-neurosciences/dubowitz-neuromuscular-centre
Total cost	195˙454 €
EC max contribution	195˙454 € (100%)
Programme	1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
Code Call	H2020-MSCA-IF-2014
Funding Scheme	MSCA-IF-EF-RI
Starting year	2016
Duration (year-month-day)	from 2016-01-01 to 2017-12-31

Partnership

Take a look of project's partnership.

#	participants	country	role	EC contrib. [€]
1	UNIVERSITY COLLEGE LONDON UNIVERSITY COLLEGE LONDON Organization address address: GOWER STREET city: London postcode: WC1E 6BT website: http://www.ucl.ac.uk contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	UK (London)	coordinator	195˙454.00

Map

Project objective

Duchenne muscular dystrophy (DMD) stems from loss of dystrophin in skeletal and cardiac muscles, which leads to loss of ambulation and cardio-respiratory failure. The most promising treatment that could be applicable to 83% of DMD patients is exon skipping, a technology where the EU is a world leader. Antisense oligonucleotide mediated exon skipping targets DMD pre-mRNA to induce skipping of specific exons and restore the open reading frame. This allows expression of shorter dystrophin proteins that lack domains encoded by the skipped exon(s). A crucial question is how to predict which short dystrophins will be stable and functional. This knowledge is fundamental to select DMD patients that would most benefit from this treatment and identify exons worth targeting via exon skipping. The goal of this proposal is to develop a new use of exon skipping technology to rapidly generate mouse models to screen short dystrophins for in vivo stability and functionality in both skeletal and cardiac muscles. This is made possible by a new exon skipping chemistry developed in the UK with unparalleled skipping efficiency in vivo and capable of targeting the heart. I will use this technology to create mouse models for two short dystrophins generated in DMD patients undergoing exon 51 skipping in the current UK clinical trial. I will then biochemically assess their stability and functionality in limb, cardiac and respiratory muscles. Parallel histological studies will assess the presence of muscle pathology with a focus on heart and diaphragm that cannot be sampled in DMD patients. This project will serve as a trampoline for future studies to identify dystrophin exons that when skipped will produce functional proteins with clinical benefits. In addition, this research will generate new fundamental knowledge on dystrophin domains critical for muscle function and may help in the prognosis of DMD patients currently undergoing exon 51 skipping.

Publications

List of publications.
year	authors and title	journal	last update
2018	Nalinda B Wasala, Jin-Hong Shin, Yi Lai, Yongping Yue, Federica Montanaro, Dongsheng Duan Cardiac specific expression of âˆ†H2-R15 mini-dystrophin normalized all ECG abnormalities and the end-diastolic volume in a 23-m-old mouse model of Duchenne dilated cardiomyopathy published pages: , ISSN: 1043-0342, DOI: 10.1089/hum.2017.144	Human Gene Therapy	2019-06-14

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