Delivering a Healthy WA
Office of Population Health Genomics  

The first Australasian Undiagnosed Diseases Program (UDP) Workshop


The purpose of this workshop is to make visible the needs of rare disease patients, and progress clinical and translational pathways to achieve definitive diagnoses in previously undiagnosed patients. These will be achieved by:

  • addressing the huge impact and significant burden that uncertainty places on people living with undiagnosed diseases, as well as on other stakeholders, including health care entities.
  • promoting the adaptation of the USA’s UDP [NIH Common Fund Initiative] framework, both within Australia and across the Australasian region.


Specific objectives at the workshop include:

  • the sharing of genomic, phenomic and matchmaking information.
  • discussing the application of knowledge management for both i) phenotypic assessment and ii) phenotyping platforms and phenotype-enabled decision support.
  • discussing the use of exome and genome sequencing technology in the context of undiagnosed diseases.
  • discussing the use of functional studies, and the establishment of networks to enable functional analyses to be conducted.
  • encouraging clinicians, patient organisations and others to help build wider referral networks and to facilitate confirmation of a diagnosis for those without one.
  • identifying key elements and challenges for implementing a successful UDP/N in Australia.


The workshop will be conducted in four sessions held over two days. Sessions include:

  • presentations from various Australian and international experts in genetic policy and research.
  • working through UDP cases received from three sources: participants, organisers and a patient.
  • facilitated discussions on the challenges of implementing a UDP.

For more information, please see the detailed program (PDF 541KB)


Date: 13-14 August 2015

Location: UWA Watersports & Leadership Complex, Cnr Stirling Hwy & Mounts Bay Rd, Crawley, Perth WA

Time: 8.30am-5pm Thursday 13 August, 9am-12:15pm Friday 14 August

Cost: $NIL

Further Information

Places at the workshop have been oversubscribed so applications to attend have now closed. However, please submit any queries regarding the workshop or its guest speakers to

Organising Committee

This workshop has been prepared by an organizing committee comprised of:

  • Clinical Associate Professor Gareth Baynam (Genetic Services of WA) [Chair]
  • Professor Jonathan Carapetis (Telethon Kids Institute & Administering Institution)
  • Professor Hugh Dawkins (Office of Population Health Genomics– WA Department of Health)
  • Professor William Gahl (National Human Genome Research Institute – US NIH)
  • Dr Stephen Groft (National Centre for Advancing Translational Sciences- US NIH)
  • Clinical Professor Jack Goldblatt (Genetic Services of WA– WA Department of Health)
  • Professor Nigel Laing (Harry Perkins Research Institute)
  • Professor John Mattick (Garvan Medical Research Institute)
  • Caron Molster (Office of Population Health Genomics– WA Department of Health)
  • Lesley Murphy (Rare Voices Australia)
  • Professor Tarun Weeramanthri (Public Health Division – WA Department of Health)

Supporting partners

This workshop is made possible by the financial and in-kind contributions of the Telethon Kids Institute; Genetic Services of Western Australia; Harry Perkins Institute of Medical Research; and the Office of Population Health Genomics, Department of Health WA.