Project

Personalized functional genomics in Mendelian diseases: from DNA variants to clinical and bioethical implications

Duration
01 January 2015 → 30 September 2021
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Animal biology
    • Biochemistry and metabolism
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Medical biochemistry and metabolism
    • Molecular and cell biology
    • Medical biochemistry and metabolism
    • Medical biochemistry and metabolism
    • Molecular and cell biology
  • Agricultural and food sciences
    • Veterinary medicine
Keywords
cellular models bioethics next generation sequencing preimplantation genetic diagnosis functional genomics DNA variant mendelian disorders
 
Project description

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.