Register for the Endo-ERN webinar on growth disorders
The European Reference Network on Rare Endocrine Conditions (Endo-ERN) is holding a webinar entitled “Molecular diagnostic testing of imprinting disorders and related growth disturbances” on Tuesday 2 March at 17:00 – 18:00 CET.
The Endo-ERN webinar will be held by Professor Thomas Eggermann from University Hospital Aachen in Germany.
The webinar will cover the different types of molecular alterations in patients with imprinting disorders, differential diagnosis will be reviewed and genetic testing strategies will be explained.
Comprehensive testing strategies that have to be applied in the diagnostic testing of congenital disorders will be illustrated using real data. The early diagnosis of a genetically-based endocrine disorder contributes to more precise management and helps patients and their families in planning their lives. Furthermore, the identification of a causative (epi)genetic alteration allows an accurate prognosis of recurrence risks for family planning as the basis of genetic counselling. Asymptomatic carriers of pathogenic variants can be identified, and prenatal testing might be offered, where appropriate.