Genetics/Bioinformatics Working Group

The focus of Genetics and Bioinformatics Working Group (WG2) is to bring together leading European experts in these areas to study the genetics causes of GnRH Deficiency.

• Create a web-based database for rare sequence variants
• Provide expertise for new genetic technologies including whole-exome sequencing and detection of copy number variation
• Facilitate access of network investigators to advanced genetic research platforms
• Enable researchers to partner at will to jointly investigate select families with unique phenotypic features and/or larger patient cohorts
• Identify the gene(s) mutated in each patient and contribute this information to the database
• Elucidate the genotype-phenotype correlations together with members of the Clinical Working Group (WG1)
• Sharing data from exome sequencing on de-identified GnRH deficient patients
• Establish guidelines for sharing negative results on the website, to prevent duplication of efforts, and facilitate optimal use of investigators' resources

Nicolas De Roux

Catherine Dodé

Ioannis Xenarios