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

Genetics and Precision Medicine in Rare Diseases1

Aim: 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.

Target group: medical doctors, geneticists & molecular researchers affiliated to an European Reference Networks

Registration deadline: 23 March

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.

Workshop summary

WorkshopERN Workshop: Genetics and Precision Medicine in Rare Diseases
DateMay 18th - May 19th, 2023
Time14:30 – 15:30 hr
LocationLisbon, Portugal
OrganisationCarolina Neves (Associacao Protectora dos Diabéticos de Portugal (APDP)/ EJP RD
WebsiteVisit workshop website
RegistrationRegister for workshop
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