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