Studying in-situ, in-vivo, and in-silico the pleiotropic action of collagen-VI to identify potential late-onset risks in COL6-CMD patients

MDBRCMD

Feb 1

Awardee: Jeanette Erdmann

Institution: Universität zu Lübeck

Grant Amount: $48,876

Funding Period: February 1, 2022 - January 31, 2023

Summary:

Due to better healthcare, COL6-CMD patients have a significantly longer life expectancy today than a few decades ago. For future health management of these patients early recognition of potential late-onset disease risks such as aneurysms, cardiovascular, and intestinal diseases can be vital. We will make use of col6a2 KO zebrafish (by morpholino antisense oligonucleotides) to comprehensively study the pleiotropic action of collagen-VI. Moreover, we will leverage human genetic data from UK biobank to identify by phenome-wide association study associations between genetic variants in COL6A2 gene and potential disease risks. Both strategies may help us to identify potential late-onset risks in COL6-CMD patients.

MDBRCMD2021-1

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Studying in-situ, in-vivo, and in-silico the pleiotropic action of collagen-VI to identify potential late-onset risks in COL6-CMD patients

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