Code
01N02912
Duration
01 January 2012 → 31 October 2016
Funding
Regional and community funding: Special Research Fund
Promotor
Research disciplines
-
Medical and health sciences
- Endocrinology and metabolic diseases
- Laboratory medicine
- Medical systems biology
- Paediatrics and neonatology
- Endocrinology and metabolic diseases
- Laboratory medicine
- Medical systems biology
- Molecular and cell biology
- Paediatrics and neonatology
- Nursing
- Endocrinology and metabolic diseases
- Laboratory medicine
- Medical systems biology
- Molecular and cell biology
- Paediatrics and neonatology
Keywords
genetic cause
disorder of sex development (DSD)
next generation sequencing
gene
Project description
In Disorders of Sex Development (DSD), a definitive genetic cause is only identified in 20-30% of cases, thereby limiting the quality of many biological and outcome studies, due to inclusion of highly heterogenous patient groups. This project investigates the role of newly discovered genes and molecular genetic pathways involved in DSDs, making use of the most advanced molecular genetic techniques.