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.
To maximize research value of patient cohorts with rare CNV, it is essential to ensure uniformity of protocols for NDD clinical research and patient phenotyping.
New technologies, such as patient derived stem cells, direct cell reprogramming and genome-wide sequencing technologies offer huge potential for detailed patient studies. We will consider how best to utilize emerging technologies for patient to the clinical level for patient-based studies.
A key objective of MINDDS is to establish methods and protocols to capture and integrate NDD patient data within discoverable databases, ensuring that it is available for data sharing and health informatics.
To deliver its objectives MINDDS needs to integrate across all of the network’s activities and partners, and converge with wider basic, preclinical and clinical neuroscience research. By ensuring integration and convergence, the knowledge gained from studying rare CNVs may drive understanding for all neuropsychiatric disorders.