Data di Pubblicazione:
2023
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.
Tipologia CRIS:
01.01 Articolo in rivista
Keywords:
Intellectual property; Patent; Drug Discovery; Diagnosis; Congenital disorder(s) of glycosylation; CDG; Rare disease
Elenco autori:
Andreotti, Giuseppina; Cubellis, MARIA VITTORIA
Link alla scheda completa:
Pubblicato in: