AI in Rare Variant Analysis & Orphan Drug Development

Updated on: October 29, 2025

AI in Rare Variant Analysis & Orphan Drug Development

Key Aspects – AI application in Precision Medicine

The use of artificial intelligence (AI) in rare variant analysis is changing the way orphan drugs are made, giving people with rare illnesses new hope. As a result of restricted data, high research costs, and long development times, orphan drugs, which are made for conditions that only affect a small group of patients, have had a hard time getting approved in the past. These gaps are now being filled by AI, which quickly finds, sorts, and ranks rare DNA variants that are linked to disease.

AI-driven rare variant analysis is used throughout the entire orphan drug process, from interpreting genetic data and designing therapies to improving trials and keeping an eye on them after the drug has been released. Its tasks include combining different types of genomic data, guessing how protein structures will change, modeling disease processes, and finding new targets that can be targeted with drugs.

At SGT University, the Faculty of Pharmacy incorporates precision medicine and AI-driven research into its curricula, enabling students to innovate in pharmaceutical science and orphan drug development.

Blog by: Dr. Akhilesh Patel

Designation: Department of Pharmacy Practice, SGTCOP

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