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
Dr. Chung was trained at The University of Hong Kong and subsequently at the University of Toronto, The Hospital for Sick Children, specialising in Clinical Genetics. Dr. Chung joined the Hong Kong Genome Institute as the Chief Scientific Officer in 2021, and is currently the President-Elect of the Asia Pacific Society of Human Genetics. His research focuses in (1) Medical application of whole genome technologies, and (2) Clinical genetics & genetic counselling.
Dr. Kwok's research focuses on developing tools and strategies to study the human genome and the role of human variation in common diseases. He developed single molecule strategies for genome mapping and rare genetic disease diagnosis. In addition, he recently launched an effort to bring genetics into clinical practice and implement precision management of common diseases.
