Department of Biology, University of Napoli "Federico II", Complesso Universitario Monte Sant'Angelo, Via Cinthia, Napoli, 80126, Italy.
Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, Pozzuoli, 80078, Italy.
Orphanet J Rare Dis. 2023 Aug 29;18(1):247. doi: 10.1186/s13023-023-02852-w.
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.
先天性糖基化障碍是一组超过 160 种罕见的蛋白质和脂质糖基化遗传缺陷。自 1980 年首次报道 PMM2-CDG（世界范围内最常见的 CDG）以来，研究取得了重大进展，但几乎所有疾病仍然无法治愈。自从将全外显子/全基因组测序作为一种诊断工具引入以来，CDG 的诊断速度一直在迅速提高。在这里，我们通过分析所有与该主题相关的专利来追溯 CDG 的历史。为此，我们探索了 Espacenet 数据库，提取了专利列表，然后将它们分为三大类：（1）CDG 的药物/治疗方法，（2）CDG 的药物输送工具，（3）CDG 的诊断工具。尽管在过去 30 年中取得了巨大的科学进步，但仍迫切需要诊断工具、药物和生物标志物。
