14

Jun

2022

EJP RD ERN Workshop: Functional exploration of genetic variants in cardiac diseases

Registration has been extended until 20 May  2022 -12hCEST GENERAL INFORMATION ConceptCardiomyopathies and channelopathies are severe and misunderstood diseases that affectmillions of patients worldwide. More than a thousand pathogenic variants have beenidentified in numerous genes,…

  • 09:00 - 17:00 (15 June 2022)
  • Lyon, France

10

Jun

2022

Ectodermal dysplasias: Training course and update

GENERAL INFORMATION ConceptEctodermal dysplasias (ED) are rare and orphan genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands (new definition, Wright et al, 2019).…

  • 09:30 - 18:15
  • Paris, France

09

Jun

2022

EJP RD ERN Workshop: Translational research on bone impairment in rare diseases

GENERAL INFORMATION ConceptBone impairment in rare diseases can affect many patients. Indeed, this concerns a vast number of pathologies: constitutional bone diseases such as osteogenesis imperfecta, achondroplasia or fibrous dysplasia of the bones/McCune Albright syndrome,…

  • 10:00 - 12:35 (10 June 2022)
  • Faculty of Medicine of Lyon, France