Systems Genomics, Mitochondrial Dysfunction, and Immune Dysregulation in Ehlers–Danlos Syndromes and Heritable Connective Tissue Disorders
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 25 May 2026 | Viewed by 95
Special Issue Editor
Interests: medical genetics; Ehlers–Danlos syndromes; heritable connective tissue disorders; osteogenesis imperfecta; mitochondrial dysfunction; mast cell activation and immune dysregulation; skeletal fragility; precision and genomic medicine; vitamin D; multiple sclerosis
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Ehlers–Danlos syndromes (EDSs) and related heritable connective tissue disorders represent a genetically and clinically heterogeneous group of conditions that remain underdiagnosed and frequently misunderstood. Recent work has begun to uncover complex interactions among extracellular matrix genes; immune dysregulation, including mast cell activation; and mitochondrial dysfunction that may contribute to tissue fragility, pain, dysautonomia, and systemic complications. This Special Issue will highlight advances in gene discovery, variant interpretation, and genotype–phenotype correlations across the EDS spectrum, including hypermobile EDS, as well as insights from multi-omics and functional studies. We welcome original research, comprehensive reviews, and case-based translational studies that integrate genomics with mechanistic and clinical data to refine disease classification, improve diagnostic strategies, and inform precision management. By bringing together experts across genetics, molecular biology, immunology, and clinical medicine, this Special Issue aims to accelerate progress toward better outcomes for individuals living with these challenging disorders.
Dr. Arash Hossein-Nezhad
Guest Editor
Manuscript Submission Information
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Keywords
- Ehlers–Danlos syndrome
- hypermobile Ehlers–Danlos syndrome
- heritable connective tissue disorders
- human genomics
- mitochondrial dysfunction
- mast cell activation
- variant interpretation
- genotype–phenotype correlation
- multi-omics
- precision medicine
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