Collection Overview

Scientific Reports has launched a Guest-Edited Collection on Rare diseases in children.

Individual rare diseases affect less than 1 in 2,000 people, yet, their combined effect is tangible in the world population. Of all the documented rare diseases, three-quarters of those affect children. Diagnosis is often complicated and delayed, even though the majority of rare diseases are genetic. Treatments are limited, hampered by a lack of understanding of the pathomechanism and lack of tailored medications.  

This Collection is dedicated to the patients, their families, healthcare workers and advocates. It welcomes original research articles that advance our understanding of rare diseases in children including epidemiology, diagnosis, mechanism and treatment.   

This will be a Collection of original research papers and will be open for submissions from all authors – on the condition that the manuscripts fall within the scope of the Collection and of Scientific Reports more generally. We are welcoming submissions until 17th April 2026.

Why is this Collection important? 

“Rare diseases are a global health challenge, affecting far more people than their name suggests. The molecular mechanisms causing the pathologies are often largely unknown, limiting the ability to plan targeted strategies. In vitro and in vivo models reproducing specific human rare conditions are essential for progress in this field. This collection provides an excellent opportunity for scientists working with different model systems, from invertebrates to human cells and organoids, to collaborate in a global effort to generate new rare disease models and share all possible tools with the scientific community to help find a cure.” - Dr. Michela Ori

This Collection also supports and amplifies research related to SDG 3 - Good health and wellbeing and SDG 10 - Reduced inequalities. 

Why submit to a Collection? 

Collections like this one help promote high-quality science. They are led by Guest Editors, who are experts in their fields, and In-House Editors and are supported by a dedicated team of Commissioning Editors and Managing Editors at Springer Nature. Collection manuscripts typically see higher citations, downloads, and Altmetric scores, and provide a one-stop-shop on a cutting-edge topic of interest.

Who is involved? 

Guest Editors:

• Mei-Sing Ong, Boston Children’s Hospital, USA
• Michela Ori, University of Pisa, Italy
• Elizabeth Emma Palmer, Sydney Children’s Hospitals Network, Australia

Internal Team:

• In-House Editor: Joyce Rafferty, Scientific Reports, USA
• Commissioning Editor: Emily Sharpe, Fully OA Brands, Springer Nature, UK
• Managing Editor: Amy Irving, Fully OA Brands, Springer Nature, UK

How can I submit my paper? 

Visit the Collection Page to find out more about this Collection and how to submit your article.