The developmental brain disorders research program (at the Seattle Children’s Research Institute):
- To understand the natural history of CCND2 related disorders.
- To understand the molecular spectrum of CCND2 related disorders.
- To understand the functional consequences of CCND2 mutations in vivo and in vitro (including in human iPSCs and cerebral organoids)
- To identify the most optimal therapeutic approaches for children with CCND2 related disorders.
- Any child suspected or identified to have CCND2 related disorders.
- Longitudinal (long-term) / prospective enrolment.
- Delineation of canonical phenotypes associated with CCND2 mutations, with a special focus on neurologic and neuroimaging features.
- Characterization of types of disease-causing CCND2 mutations, tissue distribution and levels of mosaicism.
- Identification of optimal therapeutic targets for CCND2 related neurological disorders.