Genetic Modifiers of Hemoglobinopathies: Recent Advances and Future Directions
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".
Deadline for manuscript submissions: closed (30 June 2024) | Viewed by 12570
Special Issue Editors
Interests: human hemoglobinopathies and globin gene control; human genomics
Interests: hemoglobinopathies; genetic modifiers; patient registries; biological databases
Interests: advanced therapies; genetic modifiers; regulation of globin expression; rare anemias
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Special Issue Information
Dear Colleagues,
Hemoglobinopathies, including sickle cell disease and thalassemia syndromes, are the most common monogenic diseases worldwide. Although their primary cause is well established through known pathogenic variants in the two globin gene clusters, the diverse clinical manifestations and the varying severity of hemoglobinopathies are largely attributed to the influence of genetic modifiers. Hundreds of genetic modifiers of different hemoglobinopathy phenotypes have already been identified by association studies, and genome-wide association studies (GWAS) in particular have proven to be powerful tools for the evaluation of the effect of genetic loci on specific disease phenotypes. Established modifiers serve as therapeutic targets, and have already greatly contributed to existing insights in the molecular mechanisms of disease pathogenicity. However, it is expected that there are many additional genetic variants that can modify disease severity and response to treatment. Taken together, a comprehensive understanding of modifiers is critical, as they will increasingly inform genetic counselling, diagnosis, prognosis, treatment decisions and therapy development for hemoglobinopathies.
The International Hemoglobinopathy Research Network (INHERENT; https://inherentnetwork.org) was recently established to study the role of genetic modifiers in hemoglobinopathies, through a large-scale, multi-ethnic GWAS. INHERENT brings together nine existing international or regional consortia in the field of hemoglobinopathies, and involves more than 200 experts from over 110 organizations, spanning 44 countries worldwide. With a target sample size of 30,000 patients and by promoting the participation of different populations, INHERENT aims to address challenges of previous studies related to small sample sizes, low statistical power and limited genetic diversity.
For this Special Issue, we aim to compile current knowledge and identify gaps related to the role of genetic modifiers for hemoglobinopathies and to highlight key priority areas for future collaborative research through INHERENT.
We welcome original research articles, reviews, opinion papers, perspectives, and short communications on topics related to the role of genetic modifiers and associated phenotypes in hemoglobinopathies and encourage the inclusion of illustrations of concepts and pathways.
Prof. Dr. Alex Felice
Dr. Petros Kountouris
Dr. Carsten W. Lederer
Guest Editors
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Keywords
- hemoglobinopathies
- genetic modifiers
- thalassemia
- sickle cell disease
- association studies
- biomarkers
- GWAS
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