Project

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

Code

01G01115

Duration

01 January 2015 → 30 September 2021

Funding

Regional and community funding: Special Research Fund

Promotor

Elfride De Baere

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.