Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Turkiye.

ABSTRACT:

Introduction

Diagnosis, treatment and management of rare diseases (RD) pose unique challenges due to their complex nature, significantly impacting the daily experiences of researchers and healthcare professionals working in this field. Despite increasing awareness and progress in the field of RD worldwide in recent years, a significant gap remains in our understanding of the specific barriers that these professionals face in their work with RD. This study provides a detailed survey analysis that sheds light on the challenges that researchers and healthcare professionals face in diagnosing, treating, managing and conducting research on RD.

Methods

We developed a national online survey with three RD stakeholder groups (Researchers, Healthcare professionals and researcher-healt

SUBMITTER: Durmus S 

PROVIDER: S-EPMC11795313 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature