Project

Genetic mechanism involved in 46,XY and 46,XX Disorders of Sex Development

Code

01N02912

Duration

01 January 2012 → 31 October 2016

Funding

Regional and community funding: Special Research Fund

Promotor

Martine Cools

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.