Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipidglycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, researchmade great strides, but nearly all of them are still missing a cure. CDG diagnosis has been at a rapid pace since theintroduction of whole-exome/whole-genome sequencing as a diagnostic tool. Here, we retrace the history of CDGby analyzing all the patents associated with the topic. To this end, we explored the Espacenet database, extracted alist of patents, and then divided them into three major groups: (1) Drugs/therapeutic approaches for CDG, (2) Drugdelivery tools for CDG, (3) Diagnostic tools for CDG. Despite the enormous scientific progress experienced in thelast 30 years, diagnostic tools, drugs, and biomarkers are still urgently needed.
Congenital disorders of glycosylation: narration of a story through its patents
Maria Monticelli;Giuseppina Andreotti
;
2023
Abstract
Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipidglycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, researchmade great strides, but nearly all of them are still missing a cure. CDG diagnosis has been at a rapid pace since theintroduction of whole-exome/whole-genome sequencing as a diagnostic tool. Here, we retrace the history of CDGby analyzing all the patents associated with the topic. To this end, we explored the Espacenet database, extracted alist of patents, and then divided them into three major groups: (1) Drugs/therapeutic approaches for CDG, (2) Drugdelivery tools for CDG, (3) Diagnostic tools for CDG. Despite the enormous scientific progress experienced in thelast 30 years, diagnostic tools, drugs, and biomarkers are still urgently needed.File | Dimensione | Formato | |
---|---|---|---|
Monticelli et al (Orphanet J 2023) review patents.pdf
accesso aperto
Descrizione: Congenital disorders of glycosylation: narration of a story through its patents
Tipologia:
Versione Editoriale (PDF)
Licenza:
Creative commons
Dimensione
1.76 MB
Formato
Adobe PDF
|
1.76 MB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.