Human organoid modelling of neurogenetic epilepsy syndromes

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Title
Human organoid modelling of neurogenetic epilepsy syndromes

CoPED ID
7e49f24d-0309-4a2d-8807-498be9396bb6

Status
Active

Funders

Value
No funds listed.

Start Date
Sept. 30, 2021

End Date
Sept. 29, 2024

Description

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Rare single gene disorders manifest in the neonatal period. The Next Generation Children's Project has used whole genome sequencing of patients and their parents to diagnose 50 patients with neurogenetic epilepsy syndromes. For example, Kv7.2 voltage-gated potassium channel subunit dysfunction is associated with KCNQ2 mutations, with resulting increased network excitability. It is increasingly clear that epilepsy-causing gene mutations affect the major glial cell populations, principally astrocytes, rather than neurons. To date, human induced pluripotent stem cell-derived (iPSC) neurons have been generated with epilepsy-causing potassium/sodium channel mutations and gene deletions, however, lack the ability to establish human cortical connections. The development of human three-dimensional cerebral organoid models (CO) that incorporate circuit forming neuron and glial phenotypes present a unique opportunity to develop new approaches in precision medicine for paediatric epilepsy patients. This project aims to generate CO from CRISPR/Cas9 KCNQ2 and KCNJ10-edited H9 ECS lines and from patient-derived iPSC-line. To assess if stem cell-derived CO harbouring KCNQ2 or KCNJ10 mutations show altered cortical plate development, assessing CO cell composition by immunolabeling for cell type-specific markers (GAD2/ CTIP2+). To show whether CO slices with perturbed KCNQ2 and KCNJ10 function or expression show bursts in activity and whether this can be suppressed by Na+ or K+ channel drugs.

David Henry Rowitch SUPER_PER
Aimée Wilson STUDENT_PER

Subjects by relevance
  1. Mutations
  2. Genes
  3. Neurons
  4. Stem cells
  5. Epilepsy
  6. Genome
  7. Children (age groups)

Extracted key phrases
  1. Human organoid modelling
  2. Neurogenetic epilepsy syndrome
  3. Human cortical connection
  4. Rare single gene disorder
  5. Paediatric epilepsy patient
  6. Dimensional cerebral organoid model
  7. Gene mutation
  8. Major glial cell population
  9. Pluripotent stem cell
  10. KCNQ2 mutation
  11. Sodium channel mutation
  12. Potassium channel subunit dysfunction
  13. Co cell composition
  14. Gene deletion
  15. Cortical plate development

Related Pages

UKRI project entry

UK Project Locations