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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