CCND2

Research collaboration

The developmental brain disorders research program (at the Seattle Children’s Research Institute):

Aims

  • 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.

Inclusion criteria

  • Any child suspected or identified to have CCND2 related disorders.

Timeline

  • Longitudinal (long-term) / prospective enrolment.

Expected results

  • 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.