project . 2018 - 2023 . On going

EScORIAL

Emerging Simplex ORigins In ALS
Open Access mandate for Publications and Research DataOpen Access mandate for ... European Commission
  • Funder: European CommissionProject code: 772376 Call for proposal: ERC-2017-COG
  • Funded under: H2020 | ERC | ERC-COG Overall Budget: 1,980,430 EURFunder Contribution: 1,980,430 EUR
  • Status: On going
  • Start Date
    01 Jul 2018
    End Date
    30 Jun 2023
  • Detailed project information (CORDIS)
Description
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 characteriz...
Partners
Description
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 characteriz...
Partners
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