Leveraging Artificial Intelligence in the Diagnosis and Treatment of Congenital Disorders of Glycosylation: Advancements, Challenges, and Future Directions

Dr. Amina Islam ()

Journal of AI-Powered Medical Innovations (International online ISSN 3078-1930), 2024, vol. 2, issue 1, 1-9

Abstract: Artificial Intelligence (AI) is revolutionizing the diagnosis and treatment of Congenital Disorders of Glycosylation (CDG), a group of over 130 rare genetic conditions affecting glycosylation, a critical biological process. This paper explores the advancements AI has brought to CDG diagnosis and treatment, highlighting how AI tools, such as PredictSNP, REVEL, and Face2Gene, enhance diagnostic accuracy, facilitate early detection, and provide new insights into disease mechanisms. AI's role in predicting glycosylation sites, identifying Golgi proteins, and classifying disease phenotypes is examined, along with its potential for repurposing drugs to treat CDG. Despite these advancements, challenges like data quality, model interpretability, and ethical concerns remain. The paper emphasizes the need for data integration, ethical frameworks, and interdisciplinary collaboration to fully harness AI's potential in managing CDG and other rare genetic disorders.

Keywords: Artificial Intelligence (AI); Congenital Disorders of Glycosylation (CDG); Rare genetic disorders (search for similar items in EconPapers)
Date: 2024
References: Add references at CitEc
Citations:

Downloads: (external link)
https://japmi.org/index.php/japmi/article/view/6/6 (application/pdf)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:abu:abuabu:v:2:y:2024:i:1:p:1-9:id:6

Access Statistics for this article

More articles in Journal of AI-Powered Medical Innovations (International online ISSN 3078-1930) from Open Knowledge
Bibliographic data for series maintained by By Openjournaltheme ().