Congenital disorders of glycosylation: narration of a story through its patents
Abstract Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but nearly all of them are still missing a cure. CDG d...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-08-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02852-w |
| _version_ | 1797556535269785600 |
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| author | Maria Monticelli Tania D’Onofrio Jaak Jaeken Eva Morava Giuseppina Andreotti Maria Vittoria Cubellis |
| author_facet | Maria Monticelli Tania D’Onofrio Jaak Jaeken Eva Morava Giuseppina Andreotti Maria Vittoria Cubellis |
| author_sort | Maria Monticelli |
| collection | DOAJ |
| description | Abstract Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but nearly all of them are still missing a cure. CDG diagnosis has been at a rapid pace since the introduction of whole-exome/whole-genome sequencing as a diagnostic tool. Here, we retrace the history of CDG by analyzing all the patents associated with the topic. To this end, we explored the Espacenet database, extracted a list of patents, and then divided them into three major groups: (1) Drugs/therapeutic approaches for CDG, (2) Drug delivery tools for CDG, (3) Diagnostic tools for CDG. Despite the enormous scientific progress experienced in the last 30 years, diagnostic tools, drugs, and biomarkers are still urgently needed. |
| first_indexed | 2024-03-10T17:03:16Z |
| format | Article |
| id | doaj.art-cbbdc35e54714ea29f97c6f2b8dd8639 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-10T17:03:16Z |
| publishDate | 2023-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-cbbdc35e54714ea29f97c6f2b8dd86392023-11-20T10:54:10ZengBMCOrphanet Journal of Rare Diseases1750-11722023-08-0118111910.1186/s13023-023-02852-wCongenital disorders of glycosylation: narration of a story through its patentsMaria Monticelli0Tania D’Onofrio1Jaak Jaeken2Eva Morava3Giuseppina Andreotti4Maria Vittoria Cubellis5Department of Biology, University of Napoli “Federico II”Department of Biology, University of Napoli “Federico II”Center of Metabolic Diseases, KU LeuvenDepartment of Clinical Genomics and Laboratory of Medical Pathology, Mayo ClinicInstitute of Biomolecular Chemistry ICB, CNRDepartment of Biology, University of Napoli “Federico II”Abstract Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but nearly all of them are still missing a cure. CDG diagnosis has been at a rapid pace since the introduction of whole-exome/whole-genome sequencing as a diagnostic tool. Here, we retrace the history of CDG by analyzing all the patents associated with the topic. To this end, we explored the Espacenet database, extracted a list of patents, and then divided them into three major groups: (1) Drugs/therapeutic approaches for CDG, (2) Drug delivery tools for CDG, (3) Diagnostic tools for CDG. Despite the enormous scientific progress experienced in the last 30 years, diagnostic tools, drugs, and biomarkers are still urgently needed.https://doi.org/10.1186/s13023-023-02852-wCongenital disorder(s) of glycosylationCDGRare diseaseIntellectual propertyPatentDrug Discovery |
| spellingShingle | Maria Monticelli Tania D’Onofrio Jaak Jaeken Eva Morava Giuseppina Andreotti Maria Vittoria Cubellis Congenital disorders of glycosylation: narration of a story through its patents Orphanet Journal of Rare Diseases Congenital disorder(s) of glycosylation CDG Rare disease Intellectual property Patent Drug Discovery |
| title | Congenital disorders of glycosylation: narration of a story through its patents |
| title_full | Congenital disorders of glycosylation: narration of a story through its patents |
| title_fullStr | Congenital disorders of glycosylation: narration of a story through its patents |
| title_full_unstemmed | Congenital disorders of glycosylation: narration of a story through its patents |
| title_short | Congenital disorders of glycosylation: narration of a story through its patents |
| title_sort | congenital disorders of glycosylation narration of a story through its patents |
| topic | Congenital disorder(s) of glycosylation CDG Rare disease Intellectual property Patent Drug Discovery |
| url | https://doi.org/10.1186/s13023-023-02852-w |
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