#	Pagina
attuale pagina	/open-h2020/projects/205842/index.html

Opendata, web and dolomites

BRAIN REPEATS SIGNED

Repeat polymorphisms as genetic modifiers of brain function in healthy subjects and Huntington disease mutation carriers

Total Cost €

EC-Contrib. €

Partnership

Views

Outcomes and
results

BRAIN REPEATS project word cloud

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

thereby functional psychiatric dna elucidate health mechanisms mental systematically healthcare indicate therapies diseases certain neuropsychiatric date controls normal subjects causes mutation determinants cag fraction biological small huntington disease perform mri structure virtually pathophysiology expression cognitive depression neglect cognition cohort underlying imaging translates dramatic morphometric polyglutamine neurological exonic function healthy devise possibly genes insights data nothing guanine caused triplet gene brain cytosine patient threshold adenine genetic carriers exert hd expansions repeat genomic disorders disability accelerating association expanded nevertheless basis groups pdags abnormalities variations dementia length molecular polymorphisms burden

Project "BRAIN REPEATS" 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	https://ahmadaziz.org/funding/
Total cost	97˙727 €
EC max contribution	97˙727 € (100%)
Programme	1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
Code Call	H2020-MSCA-IF-2015
Funding Scheme	MSCA-IF-EF-ST
Starting year	2016
Duration (year-month-day)	from 2016-10-01 to 2017-09-30

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	97˙727.00

Map

Project objective

Neuropsychiatric disorders such as dementia and depression are among the leading causes of disability and exert a dramatic burden on Europe’s healthcare systems. In order to devise more effective therapies it is essential to elucidate their genetic basis. However, to date genetic association studies have only identified a small fraction of the genetic determinants, possibly due to neglect of some important genomic variations, especially DNA repeat expansions. Expanded DNA repeats above a certain threshold are associated with various neurological disorders, the most common of which are polyglutamine diseases caused by exonic triplet (cytosine-adenine-guanine (CAG)) repeat expansions leading to a range of cognitive and psychiatric abnormalities. Emerging findings indicate that even CAG repeat length variations in the normal range in polyglutamine disease-associated genes (PDAGs) can affect mental health and cognition. Nevertheless, virtually nothing is known about the biological mechanisms through which these genetic variations affect brain structure and function. Therefore, the key objective of this proposal is to evaluate the effects of CAG repeat polymorphisms in PDAGs on brain structure and function, both in healthy controls and carriers of the mutation for Huntington disease (HD), the most common polyglutamine disease. To this end I will: 1) Systematically assess the association between these genetic polymorphisms and mental health, cognition and brain morphometric and functional MRI imaging in a large cohort of well-characterized control subjects and HD mutation carriers, and 2) Perform pathway analysis using gene expression data already available from these participants in order to elucidate the underlying molecular pathways. This proposal is unique as it translates novel insights into the pathophysiology of polyglutamine diseases to those of more common, complex disorders, thereby accelerating development of effective therapies for all patient groups.

Publications

List of publications.
year	authors and title	journal	last update
2017	Geerte Stuitje, Martine J. van Belzen, Sarah L. Gardiner, Willeke M. C. van Roon-Mom, Merel W. Boogaard, Sarah J. Tabrizi, Raymund A. C. Roos, N. A. Aziz Age of onset in Huntingtonâ€™s disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes published pages: e42-e42, ISSN: 0006-8950, DOI: 10.1093/brain/awx122	Brain 140/7	2019-06-13
2017	Jorien M. M. van der Burg, Sarah L. Gardiner, Albert C. Ludolph, G. Bernhard Landwehrmeyer, Raymund A. C. Roos, N. Ahmad Aziz Body weight is a robust predictor of clinical progression in Huntington disease published pages: 479-483, ISSN: 0364-5134, DOI: 10.1002/ana.25007	Annals of Neurology 82/3	2019-06-13
2017	S L Gardiner, M J van Belzen, M W Boogaard, W M C van Roon-Mom, M P Rozing, A M van Hemert, J H Smit, A T F Beekman, G van Grootheest, R A Schoevers, R C Oude Voshaar, H C Comijs, B W J H Penninx, R C van der Mast, R A C Roos, N A Aziz Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression published pages: e1143, ISSN: 2158-3188, DOI: 10.1038/tp.2017.116	Translational Psychiatry 7/6	2019-06-13
2017	Arlin Keo, N. Ahmad Aziz, Oleh Dzyubachyk, Jeroen van der Grond, Willeke van Roon-Mom, Boudewijn Lelieveldt, Marcel Reinders, Ahmed Mahfouz Co-expression patterns between ATN1 and ATXN2 coincide with brain regions affected in Huntington\'s disease published pages: , ISSN: 1662-5099, DOI: 10.3389/fnmol.2017.00399	Front. Mol. Neurosci.	2019-06-13

Are you the coordinator (or a participant) of this project? Plaese send me more information about the "BRAIN REPEATS" project.

For instance: the website url (it has not provided by EU-opendata yet), the logo, a more detailed description of the project (in plain text as a rtf file or a word file), some pictures (as picture files, not embedded into any word file), twitter account, linkedin page, etc.

Send me an email (fabio@fabiodisconzi.com) and I put them in your project's page as son as possible.

Thanks. And then put a link of this page into your project's website.

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