Exploring Rare Diseases: Genetic, Genomic and Metabolomic Advances: 2nd Edition
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 31 October 2025 | Viewed by 332
Special Issue Editors
Interests: molecular genetics and genomics; next generation sequencing; rare diseases; genetic testing; neurocutaneous syndromes; copy number variations
Special Issues, Collections and Topics in MDPI journals
Interests: autism spectrum disorders; genomic disorders; epilepsy
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
This is a continuation to our series of Special Issue “Exploring Rare Diseases: Genetic, Genomic and Metabolomic Advances”.
Rare diseases, defined as life-threatening, chronically debilitating conditions, represent a substantial public health burden as they affect ca. 2–6% of the population. Currently, there are around 5000–8000 different rare diseases, and these numbers are continuing to increase. Despite intensive research, the genetic etiology and pathomechanisms of the majority of rare diseases are still unclear, and most of them do not yet have an approved therapy. Their diagnostics and care pathways are also challenging due to their rarity, heterogeneous manifestations, multisystem involvement and the often-observed incomplete penetrance. In addition, patients with undiagnosed genetic diseases often face a diagnostic odyssey that lasts for an average of eight years; moreover, a certain number of patients receive a misdiagnosis.
However, due to new sophisticated technologies, such as high-throughput sequencing and mass spectrometry, an increasing amount of genomic and metabolomic data for various rare disorders have recently become available. These data could help us to understand biological mechanisms, identify new genes, determine causative mutations, discover biomarkers and ultimately develop novel therapeutics and diagnostic methods.
The aim of this Special Issue is to collect original and review articles that provide cutting-edge knowledge related to genetic, genomic and metabolomic investigations in rare disorders.
Dr. Judit Bene
Dr. Kinga Hadzsiev
Guest Editors
Manuscript Submission Information
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Keywords
- rare diseases
- genotype–phenotype analyses
- NGS
- mass spectrometry
- biomarker discovery
- molecular targeted therapy
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