Rare Diseases and Orphan Drugs

Thyroid

A reference network for rare thyroid complaint will allow us in an EU-wide collaboration to systemically characterize the phenotype, the genotype and treatment of these cases, including largely specialized in vitro andex-vivo tests. This won't only give important new information on the natural history and complications of these rare thyroid conditions for cases, their families and croakers, but will also allow operation of new treatment strategies in an transnational, European setting and define and ameliorate transnational guidelines on opinion and treatment.

For Thyroid, a division is made in 3 sub thematic groups

• Rare Thyroid Hormone Signaling diseases (specifically fastening on those conditions that beget a disfigurement in thyroid hormone signaling and action)
• Natural hypothyroidism (A rare complaint for which all babe in the EU are screened incontinently after birth) and hyperthyroidism.
• Non-metastatic thyroid melanoma. Regarding thyroid melanoma, there will be a close link with the ERN for Rare cancers, which includes metastatic thyroid melanoma.

The three thematic groups are grounded on different individual strategies and treatment approaches.