The SOAR Study

Project status: Active

Research area: Clinical Sciences > Brain and Mind > Genetics and Development

Aiming to understand life for adults with RASopathies like Noonan Syndrome and Neurofibromatosis type 1 (NF1).

Overview

RASopathies are a collection of related genetic conditions including Neurofibromatosis type 1 (NF1) and Noonan, Cardiofaciocutaneous (CFC), Costello, and Legius syndromes. While these conditions are most often diagnosed in childhood, they may continue to present health and psychosocial challenges throughout a person’s lifespan.

Purpose

The SOAR (Studying Outcomes in Adult RASopathies) Study aims to help researchers and clinicians who care for people with these genetic conditions understand what it’s like to live with them in adulthood.

This research is important as it will help identify areas of health and general life that may be challenging for some adults with RASopathies, which may improve clinical care.

Lead researchers

Team member	Organisation
Associate Professor Jonathan Payne	Murdoch Children's Research Institute, The Royal Children's Hospital, University of Melbourne
Dr Shruti Garg	The University of Manchester
Dr Emma Burkitt-Wright	The University of Manchester
Professor Kate Drummond	Royal Melbourne Hospital
Dr Natalie Pride	The Children's Hospital at Westmead
Associate Professor Yemima Berman	Royal North Shore Hospital
Dr Kristina Haebich	Murdoch Children's Research Institute, The Royal Children's Hospital, University of Melbourne
Professor David Coghill	Murdoch Children's Research Institute, The Royal Children's Hospital, University of Melbourne

Research team

Team member	Organisation
Ms Alice Maier	Murdoch Children's Research Institute, The Royal Children's Hospital, University of Melbourne
Dr Nicholas Ryan	Murdoch Children's Research Institute, Deakin University
Dr Gabriel Dabscheck	Murdoch Children's Research Institute, The Royal Children's Hospital, University of Melbourne
Dr Chloe Cunningham	Murdoch Children's Research Institute, Victorian Clinical Genetics Service
Dr Jane Fleming	Royal North Shore Hospital
Renee Pascouau	Murdoch Children's Research Institute