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Project
Personalized functional genomics in Mendelian diseases: from DNA variants to clinical and bioethical implications
This proposal deals with personalized functional genomics in Mendelian disorders. We will tackle non-‐coding variation by NGS approaches. We will use state-‐of-‐the-‐art knockdown, knockout and
rescue experiments in model organisms. Furthermore, functional assays in patient-‐derived cellular models such as hiPSCs will lead to understanding of mutations and mechanisms.
In addition, we will optimize PGD-‐NGS. Finally,
we will address “genom-‐ethical” questions.
Date:1 Jan 2015 → 30 Sep 2021
Keywords:cellular models, bioethics, next generation sequencing, preimplantation genetic diagnosis, functional genomics, DNA variant, mendelian disorders
Disciplines:Molecular and cell biology, Medical biochemistry and metabolism, Biochemistry and metabolism, Systems biology, Genetics, Animal biology, Veterinary medicine