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Defining human specific genetic variants in brain developmental disorders

46 months
Approved budget:
Professor Stephen Robertson
Health issue:
Human genetics and inherited/congenital conditions
Proposal type:
Lay summary
Stem cells within the developing human brain have the potential to repair neurological damage whether it be caused by in-born or acquired factors. A limited understanding of the genetic regulation of these cells limits the exploitation of this capability. We will study the genetic factors that underpin a disorder caused by mutations that affect brain stem cells. By identifying these factors, particularly those that occur in regions of the genome that are specific to humans, we aim to catalogue factors that will form a lens through which we can understand human brain development better. Aligned with this aim is our intention to study these mutations and their affects in human brain organoids, tiny self organising brain-like structures that can be grown the laboratory from human cells. Together these experiments will help develop more specific therapies for brain damage that are aimed directly at brain stem cell functions.