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Call for papers - Genomic research and clinical interventions for rare diseases

Guest Editors
Anna Lindstrand, MD, PhD, Karolinska Institutet, Sweden
Claudia M. B. Carvalho Fonseca, PhD, Pacific Northwest Research Institute, USA

Submission Status: Open   |   Submission Deadline: 16 April 2025

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.

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

About the collection

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

Image credit: H_Ko /

Meet the Guest Editors

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Anna Lindstrand, MD, PhD, Karolinska Institutet, Sweden

Prof. Anna Lindstrand is a consultant in Clinical Genetics, Director of the Clinical Genetics diagnostic laboratory (Karolinska University Hospital) and group leader for Rare Diseases research group (Karolinska Institutet). Annas main area of research is the study of rare genetic diseases, to improve genetic diagnostics, increase knowledge about genotype-phenotype correlations and further understanding of disease biology. She was one of the initiators of the Genomic Medicine Center Karolinska – Rare Diseases (GMCK-RD) that has enabled diagnostic genome sequencing of more than 14 000 rare diseases patients. Anna has a longstanding interest in in structural genomic variation and has been an early user of genome sequencing to characterize the breakpoints of genomic rearrangements.

Claudia M. B. Carvalho Fonseca, PhD, Pacific Northwest Research Institute, USA

Dr Carvalho is an Assistant Investigator at the Pacific Northwest Research Institute (PNRI), leading her laboratory to investigate the genetic causes of rare diseases and the biological mechanism of formation of genomic variants that impact disease expression. The overall goal of her lab research is to gain insight into the causes of human genetic diseases and to provide a working hypothesis for functional studies, biomarker and drug development that will accelerate research to cure rare genetic diseases. She earned her PhD in Biochemistry from the Federal University of Minas Gerais in Belo Horizonte, Brazil, and completed postdoctoral fellowship at the Baylor College of Medicine in Houston, Texas. Before joining PNRI, she was an Assistant Professor at Baylor for six years, where she maintains a visiting faculty appointment in the Department of Molecular and Human Genetics. She is also an affiliate faculty member with the University of Washington’s Department of Genome Sciences, and a faculty member of the Molecular & Cellular Biology Graduate Program.

There are currently no articles in this collection.

Submission Guidelines

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This Collection welcomes submission of Research, Method, Software, Database, and Guideline articles. Before submitting your manuscript, please ensure you have read our submission guidelines . 

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 "Genomic research and clinical interventions for rare diseases" from the dropdown menu.

All articles submitted to Collections are peer reviewed in line with the journal’s standard peer review policy and are subject to all of the journal’s standard editorial and publishing policies. This includes the journal’s policy on competing interests. 

The Guest 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 Guest Editors have competing interests is handled by another Editor or Editorial Board Member who has no competing interests.