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Project

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

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.

Date:1 Jan 2012 →  31 Oct 2016
Keywords:genetic cause, disorder of sex development (DSD), next generation sequencing, gene
Disciplines:Molecular and cell biology, Paediatrics and neonatology, Endocrinology and metabolic diseases, Laboratory medicine, Nursing, Medical systems biology