Modelling LHX2-associated neurodevelopmental disorder in human brain organoids

Principal Investigator
Dr.rer.nat. Anne Gregor, Department of Human Genetics, University Hospital Bern. For more information, please visit the website.

Neurodevelopmental disorders (NDDs) affect around 3% of the world’s population and are genetically extremely heterogeneous. Their pathomechanisms often remain elusive, hindering development of effective therapies. Recently, we have identified the transcriptional regulator LHX2 as a new candidate gene for NDDs. To better understand its role in cognitive function and dysfunction, I will develop a human brain organoid model (mini brains) starting from human induced pluripotent stem cells lacking LHX2. I will then perform single cell expression analyses on these organoids to identify abrogated developmental programs and neuronal populations and thereby shed light on the pathomechanism of LHX2-associated NDDs.