High definition disease and evolutionary modelling
My group is interested in the genetic causes of chromatin dysfunction in Autism Spectrum Disorder (ASD) and Intellectual Disability (ID), focusing on a uniquely informative panel of these syndromes caused by point mutations or copy number variations in interrelated chromatin regulators and transcription factors, probing the molecular mechanisms of their convergence/distinction at single-cell resolution and across multiple layers of regulation.
Keywords
Disease modelling / brain & cancer organoids / stem cell epigenetics / neurodevelopmental disorders / evolution of anatomically modern humans