Rare diseases and genomic medicine
- Submission status
- Closed
- Submission deadline
Globally, 3.5-6% of the human population is affected by rare diseases, corresponding to 260-450 million people worldwide. If we consider that the impact extends to family members and caregivers, rare diseases affect over 1 billion people worldwide. Rare diseases have serious social, health, and economic impacts for affected families. These difficulties stem not only from the disabilities arising from rare diseases, but also from trouble in receiving definitive diagnoses, and a lack of treatment options. The genomic revolution over the past 2 decades has led to significant advances in rare disease research as well as the establishment of nationwide projects aiming to integrate genomics into mainstream healthcare.
This Collection will feature high-impact papers on the application of genomics to tackle rare diseases. We welcome submissions on topics including (but not limited to):
- Integrative phenotype and genome data analysis to tackle the diagnostic/treatment challenges of rare diseases
- Innovative technologies and strategies to tackle rare diseases as a healthcare priority
- Description of novel genetic syndromes and their underlying disease mechanisms
- Large-scale studies providing new insight in rare disease diagnosis, disease mechanism, and treatment strategies
- The phenotypic spectrum of rare diseases in different ancestry groups across the world
Case reports that present phenotypic information without any genetic/genomic findings that provide new insights shall not be considered.
This Collection supports and amplifies research related to SDG 3.
Editors
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Brian Hon-Yin Chung
University of Hong Kong and Hong Kong Genome Institute, Hong Kong, China
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Pui-Yan Kwok
Institute of Biomedical Sciences Academia Sinica, Taiwan Cardiovascular Research Institute, University of California, San Francisco, CA, USA
All articles have undergone npj Genomic Medicine's standard peer review process and have been subject to all the journal’s standard policies. This includes the journal’s policy on competing interests. The Editors declare no competing interests with the submissions which they have handled 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.
If accepted for publication, an article processing charge applies (with standard waiver policy). If your institution or country has an open access agreement with Springer Nature, you may publish your article OA at no cost or in some cases with the costs partially funded (see details here).
All Collections are open for submissions from all authors – and not by invitation only – on the condition that the manuscripts fall within the scope of the Collection and of npj Genomic Medicine more generally.
Manuscripts submitted to an open Collection may be considered unsuitable for inclusion, particularly if they fall outside the scope of the Collection. In such cases, the authors will be notified by the editorial office and their manuscript can be considered as a regular npj Genomic Medicine submission.
npj Genomic Medicine’s in-house editors reserve the right to assume responsibility for the management of a Collection at any stage.
