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


18 May 2023 - 14:30, Lisbon, Portugal

To register please fill the application form here until 23rd March 2023.

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.


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This ERN is supported by: