Call for papers - Digital health in rare diseases

Guest Editors

Jannik Schaaf, Dr. rer. med., Goethe University Frankfurt, Germany
Michele Zoch, Dipl. -Wi. -Inf., TUD Dresden University of Technology, Germany

Submission Status: Open | Submission Deadline: 24 May 2025

BMC Digital Health is calling for submissions to our Collection, Digital health in rare diseases. This collection aims to explore the integration of digital health to the treatment and management of rare diseases, their early and accurate diagnosis, novel therapeutic intervention, patient empowerment, and the ethical implications of deploying digital health technologies in the context of rare diseases, considering issues such as data privacy, equity, and accessibility.

New Content Item This Collection supports and amplifies research related to SDG 3: Good Health & Well-Being

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Meet the Guest Editors

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Jannik Schaaf, Dr. rer. med., Goethe University Frankfurt, Germany

Jannik Schaaf studied Medical Informatics in Bachelor’s and Master’s Degree at the University of Applied Sciences in Giessen from 2010 to 2015, and has been working at the Institute for Medical Informatics at Goethe University Frankfurt since 2016. He received his PhD in 2021 on the topic of Clinical Decision Support in Rare Diseases at the Medical Faculty of the Technical University of Dresden. Since 2019, he leads a research group at the Institute of Medical Informatics in Frankfurt, which primarily focuses on Digital Health topics such as Artificial Intelligence, mHealth and Clinical Decision Support. Since April 2024, Jannik Schaaf is Professor for Digital Health in chronic and rare diseases, at the Institute of Medical Informatics in Frankfurt.

Michele Zoch, Dipl. -Wi. -Inf., TUD Dresden University of Technology, Germany

Michele Zoch studied the Diplom Business Information Systems at the TUD Dresden University of Technology. Since 2018, she is a research associate at the Institute of Medical Informatics and Biometry at the Carl Gustav Carus Faculty of Medicine at the TUD. Her research focuses on the secondary use of patient data in the context of rare diseases. As part of her work, she heads the ‘Rare Diseases’ research area at the institute.
In 2021, she co-founded the research community OHDSI Germany, which acts as national hub of Observational Health Data Sciences and Informatics (OHDSI) Europe.

About the Collection

BMC Digital Health is calling for submissions to our Collection, Digital health in rare diseases. This collection aims to explore the integration of digital health to the treatment and management of rare diseases, their early and accurate diagnosis, novel therapeutic intervention, patient empowerment, and the ethical implications of deploying digital health technologies in the context of rare diseases, considering issues such as data privacy, equity, and accessibility.

The implementation of digital technologies in the field of rare diseases represents a frontier where innovation can make an impact on patient outcomes and our understanding of these conditions. By leveraging digital health technologies, we can decipher patterns, identify biomarkers, and enhance diagnostic precision, ultimately leading to more effective treatments. Collaborative efforts have unveiled new genetic mutations, refined disease classifications, and uncovered shared pathways across seemingly distinct rare diseases. Looking ahead, the continued exploration of digital health in the rare disease landscape could potentially uncover novel therapeutic targets and accelerate the translation of research findings into tangible benefits for patients.

We invite contributions that examine a wide range of topics relating to the impact of digital health on rare diseases, including but not limited to:

Rare disease registries and digital health integration
Artificial intelligence for early diagnosis of rare diseases
Wearable technology in remote monitoring
Telemedicine and teleconsultation for improved patient access
Digital therapeutics for disease management
Mobile health apps in empowering patients with rare diseases
Health informatics and big data analytics
Telehealth services and E-health solutions for patient-centric care

This collection supports and amplifies research related to SDG 3: Good Health & Well-Being

There are currently no articles in this collection.

Submission Guidelines

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This Collection welcomes submission of original Research Articles. Should you wish to submit a different article type, please read our submission guidelines to confirm that type is accepted by the journal. Articles for this Collection should be submitted via our submission system, Snapp. During the submission process you will be asked whether you are submitting to a Collection, please select "Digital health in rare diseases" from the dropdown menu.

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.

The Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Editors have competing interests is handled by another Editorial Board Member who has no competing interests.