Review: Utility of mass spectrometry in rare disease research and diagnosis
Abstract Individuals affected by a rare disease often experience a long and arduous diagnostic odyssey. Delivery of genetic answers in a timely manner is critical to affected individuals and their families. Multi-omics, a term which usually encompasses genomics, transcriptomics, proteomics, metabolo...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2025-03-01
|
| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-025-00487-3 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850258452545273856 |
|---|---|
| author | Teresa Zhao Daniella H. Hock James Pitt David R. Thorburn David A. Stroud John Christodoulou |
| author_facet | Teresa Zhao Daniella H. Hock James Pitt David R. Thorburn David A. Stroud John Christodoulou |
| author_sort | Teresa Zhao |
| collection | DOAJ |
| description | Abstract Individuals affected by a rare disease often experience a long and arduous diagnostic odyssey. Delivery of genetic answers in a timely manner is critical to affected individuals and their families. Multi-omics, a term which usually encompasses genomics, transcriptomics, proteomics, metabolomics and lipidomics, has gained increasing popularity in rare disease research and diagnosis over the past decade. Mass spectrometry (MS) is a technique allowing the study of proteins, metabolites and lipids and their fragments at scale, enabling researchers to effectively determine the presence and abundance of thousands of molecules in a single test, accurately quantify their specific levels, identify potential therapeutic biomarkers, detect differentially expressed proteins in patients with rare diseases, and monitor disease progression and treatment response. In this review, we focus on mass spectrometry (MS)-based omics and survey the literature describing the utility of different MS-based omics and how they have transformed rare disease research and diagnosis. |
| format | Article |
| id | doaj-art-d4b798bc043a4c3fb2b498c7a79068c4 |
| institution | OA Journals |
| issn | 2056-7944 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Genomic Medicine |
| spelling | doaj-art-d4b798bc043a4c3fb2b498c7a79068c42025-08-20T01:56:09ZengNature Portfolionpj Genomic Medicine2056-79442025-03-0110111310.1038/s41525-025-00487-3Review: Utility of mass spectrometry in rare disease research and diagnosisTeresa Zhao0Daniella H. Hock1James Pitt2David R. Thorburn3David A. Stroud4John Christodoulou5Murdoch Children’s Research Institute, Royal Children’s HospitalMurdoch Children’s Research Institute, Royal Children’s HospitalMurdoch Children’s Research Institute, Royal Children’s HospitalMurdoch Children’s Research Institute, Royal Children’s HospitalMurdoch Children’s Research Institute, Royal Children’s HospitalMurdoch Children’s Research Institute, Royal Children’s HospitalAbstract Individuals affected by a rare disease often experience a long and arduous diagnostic odyssey. Delivery of genetic answers in a timely manner is critical to affected individuals and their families. Multi-omics, a term which usually encompasses genomics, transcriptomics, proteomics, metabolomics and lipidomics, has gained increasing popularity in rare disease research and diagnosis over the past decade. Mass spectrometry (MS) is a technique allowing the study of proteins, metabolites and lipids and their fragments at scale, enabling researchers to effectively determine the presence and abundance of thousands of molecules in a single test, accurately quantify their specific levels, identify potential therapeutic biomarkers, detect differentially expressed proteins in patients with rare diseases, and monitor disease progression and treatment response. In this review, we focus on mass spectrometry (MS)-based omics and survey the literature describing the utility of different MS-based omics and how they have transformed rare disease research and diagnosis.https://doi.org/10.1038/s41525-025-00487-3 |
| spellingShingle | Teresa Zhao Daniella H. Hock James Pitt David R. Thorburn David A. Stroud John Christodoulou Review: Utility of mass spectrometry in rare disease research and diagnosis npj Genomic Medicine |
| title | Review: Utility of mass spectrometry in rare disease research and diagnosis |
| title_full | Review: Utility of mass spectrometry in rare disease research and diagnosis |
| title_fullStr | Review: Utility of mass spectrometry in rare disease research and diagnosis |
| title_full_unstemmed | Review: Utility of mass spectrometry in rare disease research and diagnosis |
| title_short | Review: Utility of mass spectrometry in rare disease research and diagnosis |
| title_sort | review utility of mass spectrometry in rare disease research and diagnosis |
| url | https://doi.org/10.1038/s41525-025-00487-3 |
| work_keys_str_mv | AT teresazhao reviewutilityofmassspectrometryinrarediseaseresearchanddiagnosis AT daniellahhock reviewutilityofmassspectrometryinrarediseaseresearchanddiagnosis AT jamespitt reviewutilityofmassspectrometryinrarediseaseresearchanddiagnosis AT davidrthorburn reviewutilityofmassspectrometryinrarediseaseresearchanddiagnosis AT davidastroud reviewutilityofmassspectrometryinrarediseaseresearchanddiagnosis AT johnchristodoulou reviewutilityofmassspectrometryinrarediseaseresearchanddiagnosis |