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PromoTeRapy SIGNED

Haploinsufficiency and Intractable Epilepsy Rescue Increasing Endogenous Gene PromoterEfficiency

Total Cost €

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EC-Contrib. €

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Partnership

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 Outcomes and results

 PromoTeRapy project word cloud

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

sequences    models    epilepsy    therapy    epilepsies    expertise    biology    disorders    leads    genes    multidisciplinary    scn1a    treatment    health    mechanistic    full    integrating    neurosciences    opportunity    model    burdens    variants    neuronal    risks    fibroblast    network    create    crispr    insights    unparalleled    first    interneurons    gene    rescue    exploits    regulate    sodium    techniques    endogenous    neurology    knca1    international    fibroblasts    collaborators    regulatory    channel    dravet    untranslated    panoply    haploinsufficency    functional    focal    insertional    clinical    neurons    excitability    genetically    encodes    genetics    intractable    biophysics    strategy    mouse    reprogramming    neurophysiology    splice    syndrome    haploinsufficiency    expression    nav1    therapeutic    excitatory    genome    ucl    underlies    treat    molecular    resource    kv1    exogenous    severe    epileptic    mutagenesis    tools    combine    promoters    genetic    tool    patients   

Project "PromoTeRapy" 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.
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 Coordinator Country United Kingdom [UK]
 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-ST
 Starting year 2016
 Duration (year-month-day) from 2016-02-01   to  2018-01-31

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    UNIVERSITY COLLEGE LONDON UK (London) coordinator 195˙454.00

Map

 Project objective

This proposal will develop a new tool to rescue haploinsufficiency, which underlies many genetic disorders of neuronal excitability, and provide a new approach to treatment of intractable epilepsy. This new tool is based on the CRISPR-On technology which can regulate the expression of endogenous genes by directly targeting their promoters, which allows expression of the full panoply of splice variants and untranslated regulatory sequences. Importantly, the method does not require integrating exogenous genes into the genome, which has potential risks of insertional mutagenesis. Haploinsufficency of SCN1A, which encodes the sodium channel Nav1.1, leads to Dravet Syndrome, a severe epilepsy. My first aim is to increase SCN1A gene expression in interneurons derived by reprogramming fibroblasts obtained from Dravet Syndrome patients. I will then determine whether this strategy can be effective in non-genetic epilepsies by applying CRISPR-On technology to increase KNCA1(Kv1.1) expression in excitatory neurons in a mouse model of focal epilepsy. This project will combine my previous experience with functional analysis of neurons in different epileptic models; an unparalleled resource of genetically-characterized patients, a well characterized model of intractable epilepsy, and gene therapy techniques at the UCL Institute of Neurology; and expertise on the CRISPR-On method and fibroblast reprogramming of international collaborators. Epilepsy is one of the most important health burdens within the clinical neurosciences, and finding tools that open new mechanistic and therapeutic insights is a high priority. My proposal exploits an opportunity to establish a new tool to treat epileptic disorders and to create an international multidisciplinary network including neurophysiology, clinical neurology, molecular biology, biophysics and genetics.

 Publications

year authors and title journal last update
List of publications.
2017 Gareth Morris, Marco Leite, Dimitri M. Kullmann, Ivan Pavlov, Stephanie Schorge, Gabriele Lignani
Activity Clamp Provides Insights into Paradoxical Effects of the Anti-Seizure Drug Carbamazepine
published pages: 5484-5495, ISSN: 0270-6474, DOI: 10.1523/JNEUROSCI.3697-16.2017 		The Journal of Neuroscience 37/22 2019-06-14

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