EU H2020 Project "PROMOTERAPY (Haploinsufficiency and Intractable Epilepsy Rescue Increasing Endogenous Gene..)": description, partecipants, costs and EC-fundings

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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.

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

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. fax: n.a.
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

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

UNIVERSITY COLLEGE LONDON

UK (London)

coordinator

195˙454.00

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

List of publications.
year	authors and title	journal	last update
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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