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.