# Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International

## TL;DR

This paper discusses the creation of a global group to improve rare disease diagnoses, especially for underserved communities.

## Contribution

The paper introduces the UDNI Diagnostic Working Group, a collaborative initiative to enhance global rare disease diagnosis efforts.

## Key findings

- The UDNI DWG aims to accelerate diagnoses for more families.
- It supports the development of Undiagnosed Diseases Programs in low-resource areas.
- The group promotes discovery and expands global medical knowledge.

## Abstract

Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized health care. However, barriers to rare disease diagnoses are especially steep for those from historically underserved communities, including low- and middle-income countries. The Undiagnosed Diseases Network International (UDNI) was launched in 2015 to help fill the knowledge gaps that impede diagnosis for rare diseases, and to foster the translation of research into medical practice, aided by active patient involvement. To better pursue these goals, in 2021 the UDNI established the Diagnostic Working Group of the UDNI (UDNI DWG) as a community of practice that would (a) accelerate diagnoses for more families; (b) support and share knowledge and skills by developing Undiagnosed Diseases Programs, particularly those in lower resource areas; and (c) promote discovery and expand global medical knowledge. This Perspectives article documents the initial establishment and iterative co-design of the UDNI DWG.