# Reimagining care of people living with rare diseases with artificial intelligence

## TL;DR

This paper explores how AI can improve care for people with rare diseases by working alongside patients and clinicians throughout their healthcare journey.

## Contribution

The novel contribution is the proposal of a patient–clinician–AI triad framework for rare disease care.

## Key findings

- AI can aid in early detection and diagnosis of rare diseases.
- AI can support individualized therapies and clinical trial matching.
- A collaborative model involving AI, patients, and clinicians is proposed for better outcomes.

## Abstract

Artificial intelligence (AI) can transform rare disease care when organized around the patient journey. We outline a patient–clinician–AI triad spanning early detection, diagnosis, clinical trials, and individualized therapies.

In this Perspective, Tudor Groza and colleagues discuss how artificial intelligence (AI) can transform rare disease care when organized around the patient journey, outlining a patient-clinician-AI triad spanning early detection, diagnosis, clinical trials, and individualized therapies.