The case for including proteomics in routine diagnostic practice for rare disease
Abstract Many people with rare diseases cannot access personalized therapies because they do not have a confirmed genetic diagnosis. Promising technologies including proteomics are underutilized in routine diagnostic practice. It is time to incorporate proteomics into the diagnostic workflow to shor...
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| Main Author: | |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-05-01
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| Series: | Genome Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13073-025-01491-z |
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| Summary: | Abstract Many people with rare diseases cannot access personalized therapies because they do not have a confirmed genetic diagnosis. Promising technologies including proteomics are underutilized in routine diagnostic practice. It is time to incorporate proteomics into the diagnostic workflow to shorten time to diagnosis and expand treatment options for rare disease. |
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| ISSN: | 1756-994X |