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Personal profile

Research interests

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

specialisation

Clinical Genetics

Research interests

Personalized medicine (Emma center for personalized medicine)

  • Treatment for rare genetic disorders
  • Proof-of-concept trial: Glibenclamide treatment for Cantú Syndroom

 

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

Collaborations and top research areas from the last five years

Recent external collaboration on country/territory level. Dive into details by clicking on the dots or