Understanding RASopathies to better inform diagnosis and treatment.
Awardee: Vanessa Fear
Institution: The University of Western Australia
Award Amount: $69,885
Funding Period: February 1, 2021 - January 31, 2022
Summary:
The RASopathies are a set of syndromes that include cardiofaciocutaneous (CFC) Syndrome, Noonan Syndrome, Noonan Syndrome with lentigines, and Costello Syndrome. The syndromes are characterised by overlapping disease phenotype and there is a need to distinguish the different RASopathies in order to facilitate accurate patient diagnosis and identify better treatments. In this study we compare changes in patient DNA (genetic variants) that are causative of CFC and Noonan Syndrome. Further, we investigate a potential disease causing patient genetic variant to determine if they have CFC or Noonan Syndrome. The study harnesses gene editing technology to introduce genetic variants into stem cells, which are then matured into nerve cells. The nerve cell maturation process is monitored to identify syndrome-specific changes to inform syndrome classification in the patient, and to provide a better understanding of both CFC and Noonan Syndrome.