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DecipherBILU

Understanding functional mechanisms leading to the BILU syndrome

Total Cost €

EC-Contrib. €

Partnership

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Outcomes and
results

DecipherBILU project word cloud

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

receptors give immunodeficiency transcriptional stimulations newly function impacts dominant insights crispr regulation activation stem primary discovered syndrome combines limb receptor causative malformations gene disorder sequencing protein edited basis lines nuclear cas9 bilu genes cells homeostasis urogenital ips hormonal genetic implicated hormone exome mediating sex understand strategy patients fibroblasts mutation cell transcription signalling pluripotent metabolism altered abnormalities autosomal

Project "DecipherBILU" data sheet

The following table provides information about the project.

Coordinator	THE CHANCELLOR MASTERS AND SCHOLARSOF THE UNIVERSITY OF CAMBRIDGE Organization address address: TRINITY LANE THE OLD SCHOOLS city: CAMBRIDGE postcode: CB2 1TN website: www.cam.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.med.cam.ac.uk/nejentsev/decipherbilu/
Total cost	183˙454 €
EC max contribution	183˙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	2015
Duration (year-month-day)	from 2015-05-01 to 2017-04-30

Partnership

Take a look of project's partnership.

#	participants	country	role	EC contrib. [€]
1	THE CHANCELLOR MASTERS AND SCHOLARSOF THE UNIVERSITY OF CAMBRIDGE THE CHANCELLOR MASTERS AND SCHOLARSOF THE UNIVERSITY OF CAMBRIDGE Organization address address: TRINITY LANE THE OLD SCHOOLS city: CAMBRIDGE postcode: CB2 1TN website: www.cam.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 (CAMBRIDGE)	coordinator	183˙454.00

Map

Project objective

The BILU syndrome is an autosomal dominant primary immunodeficiency that combines B cells Immunodeficiency, Limb abnormalities and Urogenital malformations. Recently, we discovered the genetic basis of this disorder using whole exome sequencing. The causative mutation affects the protein that is involved in mediating transcriptional responses after activation of nuclear receptors (e.g. sex hormone receptors). Altered signalling via nuclear receptors is likely to impact a wide range of genes implicated in development, homeostasis and metabolism leading to the BILU syndrome. In this proposal, we develop a strategy to characterize the impact of the newly discovered mutation on nuclear receptor signalling. We will use analysis of patients’ primary fibroblasts, induced pluripotent stem (iPS) cells and CRISPR-Cas9 edited cell lines to investigate how the mutation impacts transcriptional responses after hormonal stimulations. This project will give insights in the function of the newly identified protein that is involved in the BILU syndrome and will help to understand its broader role in regulation of gene transcription.

Publications

List of publications.
year	authors and title	journal	last update
2017	Olivier Papapietro, Davide Eletto, Sarah Inglott, Vincent Plagnol, James Curtis, Mailis Maes, Delphine Cuchet-Lourenco, Emma Goss, Ali Alisaac, Siobhan O. Burns, Olivier Hermine, Capucine Picard, Alain Fischer, Anne Durandy, Sven Kracker, David Webster, Sergey Nejentsev Dominant mutation in topoisomerase 2 beta causes B cell immunodeficiency published pages: , ISSN: , DOI:	2017 Meeting of the European Society for Immunodeficiency	2019-07-24

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The information about "DECIPHERBILU" are provided by the European Opendata Portal: CORDIS opendata.