Specialization
Clinical Genetics
Focus of research
Genetic Obesity - genetic diagnostics, phenotyping, new treatment options
Syndromic obesity disorders
- 16p11.2 deletion syndrome
- Bardet-Biedl syndrome
- Disorders of GNAS inactivation
- GNB1
- PHIP (Chung-Jansen syndrome)
- Schaaf-Yang syndrome
Non-syndromic obesity disorders
- LEPR
- MC4R
- POMC
- SIM1
Personalized medicine (Emma center for personalized medicine)
- Treatment for rare genetic disorders
- Proof-of-concept trial: Glibenclamide treatment for Cantú Syndroom