Genome Medicine is calling for submissions to a new Collection on genomic research and clinical advances in rare diseases, guest edited by Anna Lindstrand and Claudia Carvalho.
The scarcity of rare and orphan diseases leaves a gap in the deeper understanding of these conditions, which in turn leads to reduced treatment options for affected individuals. Furthermore, in the absence of a general understanding of causative factors, patients with rare diseases might be misdiagnosed and thus not treated according to their needs. Further and more in-depth research on rare diseases could provide deeper knowledge on the similarities and differences between common and rare diseases, thus blurring the boundaries between them and opening new avenues for research and treatment.
This Collection aims at presenting research on causative factors for rare disease, including multi-omics research to investigate how research translates into clinical care. Topics also include new tools aiming at increasing our understanding of the biology of rare disease. Rare diseases include, but are not restricted to, neurodevelopmental disorders, rare cancers and neoplasms, cardiac and vascular conditions, endocrine and metabolic disorders, infectious diseases, musculoskeletal conditions, and paediatric disorders.
Topics of interest for this Collection include, but are not limited to:
- Improving diagnostics of rare genetic diseases using multi-omic approaches and development of guidelines for diagnostics
- Neonatal and carrier screening for rare diseases
- Curative gene therapies for rare diseases
- Novel Genotype-Phenotype associations in rare diseases
- The impact of genetic variations on drug responses
- Translation of genomics into the clinic
- Estimation of prevalence of rare diseases
- Molecular diagnostic yields and functional assays
- The role of biobanks in advancing rare disease research
- Ethical considerations, patient consent, and privacy issues in rare disease research
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