Journal article
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
M Wallis, SD Bodek, J Munro, H Rafehi, MF Bennett, Z Ye, A Schneider, F Gardiner, G Valente, E Murdoch, E Uebergang, J Hunter, C Stutterd, A Huq, L Salmon, I Scheffer, D Eratne, S Meyn, CY Fong, T John Show all
Orphanet Journal of Rare Diseases | BMC | Published : 2024
Abstract
Background: Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap for adults. The Austin Health Adult Undiagnosed Disease Program (AHA-UDP) was designed to complement existing UDP programs that focus on paediatric rare diseases and address an area of unmet diagnostic need for adults with undiagnosed rare conditions in Victoria, Australia. It was conducted at a large Victorian hospital to demonstrate the benefits of bringing genomic techniques currently used predominantly in a research setting into hospital clinical practice, and identify the benefits ..
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Grants
Awarded by Epilepsy Foundation of Victoria
Funding Acknowledgements
We are grateful to all affected individuals and their relatives who participated in this study. We thank SMe for his contribution to the initial concept for the project. We thank Jonathan Cebon (CSU director Austin Health) and Fergus Kerr (CMO Austin Health) for their support in setting up the project. This project was funded by the Victorian Medical Research Acceleration Fund (VMRAF) and the Austin Hospital. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to JC is generously supported by The Royal Children's Hospital Foundation. The research conducted at the University of Melbourne was supported by a Sanming Project of Medicine in Shenzhen (SZSM201812005); an Australia National Health and Medical Research Council (NHMRC) Program Grant (1091593) to I.E.S. and S.F.B., a Project Grant (1129054) to S.F.B., a Project Grant (1079058) to M.S.H., a Practitioner Fellowship (1006110) and Senior Investigator grant (1172897) to I.E.S., a Senior Research Fellowship (1102971) and a Senior Investigator grant (1195236) to M.B., and a R.D Wright Career Development Fellowship (1063799) to M.S.H. This study was also supported by a Taking Flight Award from CURE Epilepsy to M.F.B. and an Australian Epilepsy Research Fund Scheme Grant from the Epilepsy Foundation to M.S.H. and Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS.