Latest News
-
Second Online ITHACA Clinic
We are pleased to invite you to the second online ITHACA Clinic, scheduled for 3rd July from 12:00 to 13:30 CET on the CPMS 2.0 platform, chaired by Adela Chirita-Emandi and Sofia Douzgou Houge.The ITHACA Clinic is a multidisciplinary forum bringing together clinicians, molecular geneticists, and researchers to provide expert recommendations on challenging cases. Beyond […]
-
ERDERA Webinar: “The ERDERA Diagnostic Research Workstream – An Overview”
ERDERA invites the ERN community to an introductory webinar on “The ERDERA Diagnostic Research Workstream – An Overview”, taking place on Thursday, 28 May 2026, from 13:00 to 14:00 CEST. Presented by Holm Graessner, this opening session will explain what the ERDERA Diagnostic Research Workstream does, how it is organised, and how clinicians, researchers and […]
-
EuroDysmorpho Workshop: a few days left to register!
As previously announced, the workshop will take place from September 16-192026, at the University of Pavia, Italy, and is supported by the Italian Clinical Genetics Working Group (Gruppo di Lavoro di Genetica Clinica, SIGU). The workshop is open to any presentation in the field of human development, wether large series of patients or single, illustrative case reports. The programme […]
Open Calls
-
June 29, 2026
Biallelic ERI2 variants: an international cohort for a candidate neurodevelopmental disorder
-
June 29, 2026
Deep phenotyping and natural history of ACOX1-related disorder
-
June 29, 2026
Exploring the role of ACTL6A in Coffin-Siris syndrome
-
June 19, 2026
19p13 Deletions and Aortic Phenotype
