TY - JOUR
T1 - Congenital disorders of glycosylation
T2 - narration of a story through its patents
AU - Monticelli, Maria
AU - D’Onofrio, Tania
AU - Jaeken, Jaak
AU - Morava, Eva
AU - Andreotti, Giuseppina
AU - Cubellis, Maria Vittoria
N1 - Publisher Copyright:
© 2023, Institut National de la Santé et de la Recherche Médicale (INSERM).
PY - 2023/12
Y1 - 2023/12
N2 - 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.
AB - 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.
KW - CDG
KW - Congenital disorder(s) of glycosylation
KW - Diagnosis
KW - Drug Discovery
KW - Intellectual property
KW - Patent
KW - Rare disease
UR - http://www.scopus.com/inward/record.url?scp=85168987263&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85168987263&partnerID=8YFLogxK
U2 - 10.1186/s13023-023-02852-w
DO - 10.1186/s13023-023-02852-w
M3 - Review article
C2 - 37644541
AN - SCOPUS:85168987263
SN - 1750-1172
VL - 18
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 247
ER -