Synopsis:
Rare Diseases Now (RDNow) was established in 2019 with funding from The Royal Children’s Hospital Foundation to provide an advanced, clinically integrated diagnostic pathway for children with rare diseases (RD). We have delivered value to children and families by providing access to frontier multi-omics technologies, working on solutions to optimise rare disease care and upskilling the workforce. In this Grand Round we will describe the impact of our work at the individual, team and national levels and show how the Melbourne Children’s Campus is positioned as a global leader in rare disease care.
Speakers:
Professor Sue White is a Clinical Geneticist at Victorian Clinical Genetics Services (VCGS) with a clinical and research interest in syndromes of childhood. She works with families trying to reach answers for their child’s suspected genetic problems. She has been an early adopter of genomic testing and co-leads a research program Rare Diseases Now, which uses multi-omic sequencing technologies to search for diagnoses in undiagnosed children.
Dr Shivanthan Shanthikumar is a paediatric respiratory specialist and clinician-scientist fellow on the Melbourne Children’s Campus. His clinical areas of expertise include cystic fibrosis, asthma, and respiratory complications of childhood cancer. His research spans laboratory profiling using novel single cell techniques, to clinical trials and evaluation of new models of care, all with the aim of facilitating a precision medicine approach to paediatric respiratory disease.
Ms Heather Renton is the Founder and former Chief Executive Officer of Syndromes Without a Name (SWAN) Australia. SWAN provides information, support, connection and advocacy to families caring a child with an undiagnosed or rare genetic condition. Heather is the mother of two children, one of whom has a rare genetic condition called FOXP1 Syndrome. Heather is a consumer representative on several advisory groups and committees and is a passionate health and disability advocate.
Ms Monica Ferrie is the Chief Executive of the Genetic Support Network of Victoria (GSNV). GSNV seeks to assist people with genetic conditions and those who support them including support groups, health professionals, non-health professionals, families, and the broader community. Monica has a master of business administration and has experience in senior leadership roles in government, education, the private sector, and international projects.