Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

2 Aug 2024

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genomics and Rare Diseases
Share to Hypertrophic osteoarthropathy and related conditions
Share to Tuberous Sclerosis Complex Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39095811
DOI: 10.1186/s13023-024-03297-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is agelessPMID 39095811Read ↗

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): Solving rare and puzzling genetic disorders is ageless.Semantic proximity Read ↗

Establishing The Australian Undiagnosed Disease Network (UDN-Aus); Australia’s first national rare disease diagnostic networkSemantic proximity Read ↗

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceSemantic proximity Read ↗

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)Semantic proximity Read ↗

Undiagnosed Diseases Program-Istanbul (UDP-IST): Diagnostic Impact of Systematic Genomic Reanalysis with Deep Phenotyping in 121 PatientsSemantic proximity Read ↗

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experienceSemantic proximity Read ↗

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical ManagementSemantic proximity Read ↗

Indian Undiagnosed Diseases Program (I-UDP) - The Unmet Need.Semantic proximity Read ↗

The Korean undiagnosed diseases program: lessons from a one-year pilot projectSemantic proximity Read ↗

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)Semantic proximity Read ↗

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.Semantic proximity Read ↗

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.