AI Article Synopsis
- * Advances in genetic research and the use of whole-exome/genome sequencing have improved CDG diagnoses, but there are still no cures for most cases.
- * A study analyzed patents related to CDG, categorizing them into three groups: therapeutic drugs, drug delivery methods, and diagnostic tools, highlighting the ongoing need for effective treatments and diagnostics.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466741 | PMC |
| http://dx.doi.org/10.1186/s13023-023-02852-w | DOI Listing |
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