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  • team
  • department
  • center
  • program_project
  • nrc
  • whocc
  • project
  • software
  • tool
  • patent
  • Administrative Staff
  • Assistant Professor
  • Associate Professor
  • Clinical Research Assistant
  • Full Professor
  • Graduate Student
  • Lab assistant
  • Non-permanent Researcher
  • Permanent Researcher
  • Pharmacist
  • PhD Student
  • Physician
  • Post-doc
  • Project Manager
  • Research Associate
  • Research Engineer
  • Retired scientist
  • Technician
  • Undergraduate Student
  • Veterinary
  • Visiting Scientist
  • Deputy Director of Center
  • Deputy Director of Department
  • Deputy Director of National Reference Center
  • Deputy Head of Facility
  • Director of Center
  • Director of Department
  • Director of Institute
  • Director of National Reference Center
  • Group Leader
  • Head of Facility
  • Head of Operations
  • Head of Structure
  • Honorary President of the Departement
  • Labex Coordinator
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Scientific Fields
Diseases
Organisms
Applications
Technique
Starting Date
07
Jun 2015
Status
Ongoing
Members
6
Structures
1

About

Disorders/differences in Sex Development (DSD) are defined as congenital conditions with discordant development of chromosomal and gonadal/anatomical sex and cover a wide range of phenotypes that involve the endocrine and reproductive systems. In the last 30 years, we have put together a large collection of biological material from patients with urogenital anomalies, through collaborations with clinical centers worldwide. Much of our research on SD focuses on the genomic analysis of individuals with errors of SD (XY gonadal dysgenesis or XX testicular DSD). This unique biological resource has been central to the identification of genetic factors involved in SD and how variation in these genes leads to DSD. The genomic analysis, using whole genome/exome sequencing of sex-reversed individuals, continues to be a powerful tool for discovering novel genes and regulatory elements required for human SD. The genomic approach will be extended to include burden analysis to identify variants causing or contributing to sex-reversal.

Fundings