WG1 aims to facilitate cohort building of a rare patients who carry pathogenic CNVs that confer high risk for NDD. To achieve this, it is necessary to establish a common framework and working practices for genetic and clinical assessment.
WG1: Patient Cohort Framework
This will consider clinical, regulatory, legal and ethical requirements for NDD patient cohort building for use in current and future projects. It incorporates strong inputs from patient representatives and i experts in the area of ethics, legal and social issues (ELSI).
This will apply current knowledge, derived mainly from the new genetic insights, to agree gold standard clinical assessment criteria for patient selection.
Addressing ethical and societal issues associated NDD is a key MINDDS objective. Issues include pre-recruitment, privacy protection, informed consent, the return of individual research results and incidental findings, the impact of genetic diagnosis on patients.
Training for clinical researchers in new assessment criteria for patient recruitment, including appropriate patient and ethical considerations. We will devise training course content and hold training schools across a geographical distribution to deliver Europe-wide coverage.