The ESID Genetic Working Party wants to help to connect and support the collaborative clinical, genetic laboratories and research units associated with the ESID society. In order to facilitate access to information for genetic evaluation on primary immunodeficiencies (PIDs) to the clinicians and ESID members for their patients, the ESID working party has defined specific aims:
- Identify the different laboratories in Europe and abroad which perform genetic and prenatal genetic diagnostic for PIDs.
- Provide this information on the ESID Website to ESID members
- Develop consensus statements for genetic diagnosis of PIDs
- Establish links from the ESID website to various immunodeficiency websites and genetic laboratories about the already identified mutations in PID genes.
- Finally, in the technological “advances” context in genomics with the development of the next-generation sequencing (NGS) for the PIDs’ diagnostic, the ESID Genetics WP has organized a "PID next-generation sequencing consortium" with following goals:
- Efficiently implement and exchange experiences of genetic laboratories using NGS
- Exchange mutation data, genotypes and phenotypes (for the interpretation of ‘new’ variants)
- Develop European wide consensus guidelines for PID NGS data handling and patient information/informed consent forms
The exchange of genetic diagnostic tools will improve the diagnosis and the genetic counseling of patients with PIDs which are important for the patients support and care. Moreover, in the context of the technological advances in genomics, it is an exciting challenge to develop these new applications for the diagnosis and research of new PIDs. The ESID Genetics WP wants to be a link between clinicians, immunologists and scientists to help in the diagnosis of new PIDs and also to develop trials (i.e. on clinical and genetic correlation of specific PIDs). The Genetics working party closely collaborates with the other ESID working parties.
How to participate?
The Genetics WP regularly meets during the biennial ESID meetings and any ESID member can participate and propose trials to the head of the Genetics WP.