Project

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

Acronym
EuroDSD
Code
41H05610
Duration
01 November 2009 → 31 October 2011
Funding
European funding: framework programme
Research disciplines
  • Medical and health sciences
    • Endocrinology and metabolic diseases
    • Laboratory medicine
    • Medical systems biology
    • Pediatrics and neonatology
    • Endocrinology and metabolic diseases
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Pediatrics and neonatology
    • Nursing
    • Endocrinology and metabolic diseases
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Pediatrics and neonatology
Keywords
gene next generation sequencing genetic cause disorder of sex development (DSD)
 
Project description

In disorders of Sex develolment (DSD), a definitive genetic cause is only identifield 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.