Rianne Kruize

Short CV

Research

My project aims to provide insights into disease mechanisms in rare genetic developmental disorders with intellectual disability and to explore novel therapeutic strategies using patient-derived induced pluripotent stem cell (iPSC) models. I will focus on three representative disorders, namely Menke-Hennekam syndrome, Marshall-Smith syndrome and Pitt-Hopkins syndrome. These syndromes come with a high burden of disease that highly impacts the lives of the affected individuals and their families. Treatment options are limited to symptomatic treatment, largely due to absence of suitable preclinical models. I will establish brain organoids derived from affected individuals to gain a better understanding of the molecular and cellular mechanisms underlying neurodevelopmental abnormalities. We will assess whether therapeutic modulation of affected pathways can improve disease-associated phenotypes, providing a foundation for novel therapeutic approaches. Through this project, I aim to establish a versatile stem cell-based platform to investigate neurodevelopmental disorders, providing both mechanistic insight and a foundation for developing targeted therapeutic approaches.

Alongside the laboratory work, I will establish a clinical database for MRSHSS. This database will provide an up-to-date overview of the syndrome, thereby improving the understanding of the syndrome’s clinical spectrum and supporting revisions of the current standards of care.