EuroGentest: Reference Materials for Genetic Testing
Poster Jun 15, 2007
The lack of reference materials (RMs) for most genetic tests causes difficulties in validating and developing new assays, and results in tests being run without proper quality controls. EuroGentest, and EU-funded network for Medical Genetics, is addressing this issue by defining the present and future needs for RMs, setting priorities for and supporting the development of new RMs and building an enduring network involving all stakeholders in RM development.
Inhibition of The Auto-inflammation Suppressor Protein ISG15 Triggers Preeclampsia by Blocking Trophoblast Migration and InvasionPoster
In summary, ISG15 expression levels are crucial for trophoblast morphology and function (migration/invasion). By blocking trophoblast invasion, reduced ISG15 levels could contribute to impaired spiral artery transformation that reduces utero-placental blood flow in preeclampsia. Thus, agents inducing ISG15 expression are likely to be therapeutic in preeclampsia.
An Emerging Phenotype of Partial RAG 1/2 Deficiency Among Young Children with Autoimmunity and Viral InfectionsPoster
We describe the natural history of a cohort of 12 patients with confirmed partial RAG1/2 mutations and autoimmunity at a young age. We were seeking the link between viral infections and autoimmunity and tested candidate biomarkers that may reflect the underlying RAG1/2 protein deficiency.READ MORE
Severe Combined Immunodeficiency (SCID) caused by thymic aplasia due to a mutation in TBX1Poster
We report one of the first cases of TBX1 haploinsufficiency causing complete thymic aplasia and SCID.READ MORE