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EScORIAL SIGNED

Emerging Simplex ORigins In ALS

Total Cost €

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EC-Contrib. €

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Partnership

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 EScORIAL project word cloud

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

time    small    learning    expressivity    integrates    play    mutations    3d    life    imaging    erc    data    collection    als    cas9    thousands    simplex    successful    biological    epigenetic    frequency    genetic    effect    screens    lateral    pleiotropic    disproportionate    therapeutic    lumping    crispr    expression    contribution    my    reclassify    morphology    sclerosis    folding    algorithms    of    environmental    causal    machine    genomics    profiles    models    heterogeneity    scope    interaction    rare    nbsp    dna    urgent    patient    mri    patients    overlays    diagnostic       cellular    continuum    reporter    uses    considerably    nor    interact    phenomena    mutation    penetrance    brain    few    splitting    clinical    unmet    drug    assays    unbiased    unravel    modifiers    c9orf72    understand    disease    trial    diseases    shown    identifies    exact    blood    counselling    amyotrophic    lethal    clear    risk    genomic    created    translated    unexplained    gene    monogenetic    simply    patterns    variants    me    dimensional   

Project "EScORIAL" data sheet

The following table provides information about the project.

Coordinator
UNIVERSITAIR MEDISCH CENTRUM UTRECHT 

Organization address
address: HEIDELBERGLAAN 100
city: UTRECHT
postcode: 3584 CX
website: www.umcutrecht.nl

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 Netherlands [NL]
 Total cost 1˙980˙434 €
 EC max contribution 1˙980˙434 € (100%)
 Programme 1. H2020-EU.1.1. (EXCELLENT SCIENCE - European Research Council (ERC))
 Code Call ERC-2017-COG
 Funding Scheme ERC-COG
 Starting year 2018
 Duration (year-month-day) from 2018-07-01   to  2023-06-30

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    UNIVERSITAIR MEDISCH CENTRUM UTRECHT NL (UTRECHT) coordinator 1˙980˙434.00

Map

 Project objective

My aim is to understand the exact genetic contribution in every patient with Amyotrophic Lateral Sclerosis (ALS), a lethal disease with a life time risk of 0.3% and an urgent unmet therapeutic need. I have recently shown a disproportionate large contribution from low-frequency genetic variants in ALS. ALS is not simply a collection of unique rare diseases with a monogenetic cause nor is it a diagnostic continuum with a complex contribution of thousands of small effect factors. ALS is in-between, which I call “simplex”, where in each patient a few, considerably strong genetic factors with or without environmental factors are at play. ALS mutations are characterized by reduced penetrance, variable clinical expressivity, have specific pleiotropic clinical features and interact with environmental factors. These phenomena are unexplained, but provide me with important and new opportunities in order to unravel the clinical, genetic and biological heterogeneity in ALS. I have created new research fields to go an important step beyond the state of the art: Splitting by lumping uses novel machine learning algorithms to reclassify patients using clinical pleiotropic features, environmental factors and blood epigenetic profiles to identify novel ALS mutations. Imaging genomics overlays patterns in ALS-associated brain morphology on MRI with brain gene-expression patterns to find ALS mutations. ALS risk in 3D integrates data on three-dimensional folding of DNA with genetic data to identify causal mutations and mutation-to-mutation interaction. ALS genomic modifiers in 3D identifies modifiers of C9orf72 mutations through the development of cellular reporter assays and CRISPR-Cas9 based screens. Genomic findings are translated using cellular models which can be used for targeted and unbiased drug screens. If successful, my approaches can be applied beyond the scope of this ERC and will have a clear impact on clinical trial design and genetic counselling in ALS in particular.

 Publications

year authors and title journal last update
List of publications.
2019 Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew Gross, Giuseppe Narzisi, Brett Bowman, Konrad Scheffler, Joke J F A van Vugt, Courtney French, Alba Sanchis-Juan, Kristina Ibáñez, Arianna Tucci, Bryan R Lajoie, Jan H Veldink, F Lucy Raymond, Ryan J Taft, David R Bentley, Michael A Eberle
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
published pages: 4754-4756, ISSN: 1367-4803, DOI: 10.1093/bioinformatics/btz431
Bioinformatics 35/22 2020-03-05
2019 Hannelore K. van der Burgh, Henk-Jan Westeneng, Jil M. Meier, Michael A. van Es, Jan H. Veldink, Jeroen Hendrikse, Martijn P. van den Heuvel, Leonard H. van den Berg
Cross-sectional and longitudinal assessment of the upper cervical spinal cord in motor neuron disease
published pages: 101984, ISSN: 2213-1582, DOI: 10.1016/j.nicl.2019.101984
NeuroImage: Clinical 24 2020-03-05
2019 Annelot M. Dekker, Frank P. Diekstra, Sara L. Pulit, Gijs H. P. Tazelaar, Rick A. van der Spek, Wouter van Rheenen, Kristel R. van Eijk, Andrea Calvo, Maura Brunetti, Philip Van Damme, Wim Robberecht, Orla Hardiman, Russell McLaughlin, Adriano Chiò, Michael Sendtner, Albert C. Ludolph, Jochen H. Weishaupt, Jesus S. Mora Pardina, Leonard H. van den Berg, Jan H. Veldink
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis
published pages: , ISSN: 2045-2322, DOI: 10.1038/s41598-019-42091-3
Scientific Reports 9/1 2020-03-05
2019 Rick A.A. van der Spek, Wouter van Rheenen, Sara L. Pulit, Kevin P. Kenna, Leonard H. van den Berg, Jan H. Veldink
The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
published pages: 432-440, ISSN: 2167-8421, DOI: 10.1080/21678421.2019.1606244
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20/5-6 2020-03-05

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