EJP RD – ERN Workshop: Genetics and Precision Medicine in Rare Diseases

  • 18 May 2023 - 14:30
  • Lisbon, Portugal
Genetics and Precision Medicine in Rare Diseases, molecular and administration aspects of Hereditary breast and ovarian cancer genetic population screening (HBOC GPS)

Precision medicine is an emerging approach to clinical research and patient care based on patient-individual medical data, genetic, clinical phenotype and sociodemographic characteristics to provide patient-level predictions of disease course and response to treatments options. Monogenic diabetes is an example of precision medicine success by tailoring treatment according to genetic variants.

Besides reviewing the clinical implications of genetic diagnosis, we pretend to explore in details the case of monogenic diabetes: from the genetic studies to clinical practice with the benefits of precision medicine. This model can be applied in other rare genetic diseases.

Learning from monogenic diabetes as a model of precision medicine by genetic diagnosis and elaborating a proposal of a study design to apply precision medicine in other rare genetic diseases.

Medical doctors, geneticists, molecular researchers – employees of affiliated to an ERN-Full Member or affiliated Partner institution.

Lectures and discussion. Posters presenting some cases and study projects are also invited. They will be presented and discussed during the Workshop.

To register please fill the application form here until 2 May.

The training workshop is free of charge.  Travel and hotel expenses will be reimbursed for all selected 20 ERN participants. Lunch and dinner will be provided on site for all participants.

Affiliated to an ERN-Full Member or Affiliated Partner institution.

The organizer together with one member of the WP17 Scientific Evaluation Committee will select the most appropriate ERN participants. Priority will be given to authors of submitted posters. Registration for the workshop is on a first-come, first-served basis.

All registered participants will be informed if they are selected to attend this training course before 7th April.

At the end of the training workshop a Certificate of Attendance will be sent to the participants who attended the entire workshop and completed the survey. 
Credits of Continuing Education in Medicine might be issued – to be informed as soon as possible, if there is such a possibility. 

Lisbon, Portugal (exact address to be confirmed)

If you have specific questions, please write to the workshop organizer:
Carolina Neves (email: acarolneves22@gmail.com)

For general inquiries about the workshops in the ERN RD Support and Training Program please write to:


  • Start Date:18 May 2023
  • Start Time:14:30
  • End Date:19 May 2023
  • End Time:15:30
  • Location:Lisbon, Portugal