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.