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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.

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

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

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