Congenital disorders of glycosylation: narration of a story through its patents.
CDG
Congenital disorder(s) of glycosylation
Diagnosis
Drug Discovery
Intellectual property
Patent
Rare disease
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
29 08 2023
29 08 2023
Historique:
received:
09
06
2023
accepted:
04
08
2023
medline:
31
8
2023
pubmed:
30
8
2023
entrez:
29
8
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37644541
doi: 10.1186/s13023-023-02852-w
pii: 10.1186/s13023-023-02852-w
pmc: PMC10466741
doi:
Types de publication
Journal Article
Review
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
247Informations de copyright
© 2023. Institut National de la Santé et de la Recherche Médicale (INSERM).
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