Genetics Working Party
Genetics WP Newsletter - December 2013
The ESID Genetic Working Party (WP) wants to help with connecting and supporting the collaborative clinical, genetic laboratories and research units associated with the ESID organization. The exchange of genetic diagnostic tools will improve the diagnosis and the genetic counseling of patients with primary immunodeficiencies (PIDs), which are important for the patients’ supporting care.
In the technological advances’ context in genomics, we organized the second workshop about next-generation sequencing (NGS) in PIDs, March 21th 2014. This meeting will take place at Amsterdam, "PID next-generation sequencing consortium-ESID." Fifteen participants will attend to this workshop coming from Austria, Belgium, France, Germany, Italy, the Netherlands, Finland and UK.
This workshop’s goals are:
- Efficiently implement and exchange experiences of genetic laboratories
- Exchange mutation data, genotypes and phenotypes (for the interpretation
of ‘new’ variants)
- Develop European wide consensus guidelines for PID NGS
In the next issue of the ESID Newsletters, the conclusions of this second workshop will be reported. If you want participate to this workshop, please contact
for the Genetics WP of ESID