A reference network for rare thyroid disease will allow us in an EU-wide collaboration to systemically characterise the phenotype, the genotype and treatment of these patients, including highly specialised in vitro and ex-vivo tests. This will not only provide important novel information on the natural history and complications of these rare thyroid diseases for patients, their families and physicians, but will also allow application of novel treatment strategies in an international, european setting and define and improve international guidelines on diagnosis and treatment.
For Thyroid, a division is made in 3 subthematic groups: a) Rare Thyroid Hormone Signaling Disorders (specifically focusing on those diseases that cause a defect in thyroid hormone signaling and action), b) congenital hypothyroidism (a rare disorder for which all newborns in the EU are screened immediately after birth) and hyperthyroidism, and c) non-metastatic thyroid carcinoma. Regarding thyroid carcinoma, there will be a close link with the ERN for Rare cancers, which includes metastatic thyroid carcinoma. The three thematic subgroups are based on different diagnostic strategies and treatment approaches.
