- Functional Genetics
- Phenotypical consequences of different types of genomic variability
Study of conserved non-coding sequences
- Functional Genetics
- Pathological variations: single gene disorders
- Pathological variations: polygenic disorders
Trisomy 21 (Down’s syndrome)
- Epigenetic Modifications
- Role and reproduction (infertility, environmental toxins)
Role in human pathologies
- Genetic/Genomic Diagnosis
- Translational and Clinical Research
Development of new diagnostic tests, implementation of high throughput sequencing techniques: sequencing of the exome, genome, transcriptome
- The Department of Genetic Medicine and Development (FR) of the Geneva Faculty of Medicine
- The iGE3 (FR) (Institute of Genetics and Genomics in Geneva) of the University of Geneva
- Center of Genetic Medicine of HUG