WG-2 “Biology and Genetics”

Chair:Prof Kenneth McElreavey (FR)
Co-Chair:Dr Andy Greenfield (UK)


The Working Group 2 will bring together experts in basic and translational science to provide the expertise for the application of novel molecular technologies in DSD. Specifically it will

  • Provide expertise for the application of new genetic technologies on the basis of next generation sequencing.
  • Create a network of investigators with access to advanced genetic research platforms
  • Characterise the spectrums of genetic variations in the patient cohort made available through the I-DSD database.
  • Align with bioinformatics to facilitate the exchange of large-scale data in DSD research
  • Prioritize candidate genes and develop adequate model systems for the elucidation of their effects on normal and unusual sex development.
  • Elucidate genotype-phenotype correlations (together with WG-1 and WG-3)
  • Provide guidelines for the sharing of positive and negative results in the forum to facilitate optimal use of resources.
  • Translate findings into new diagnostic genetic products as well as software solutions that will be commercially exploitable under European leadership in biomedicine.