Topic: Genomic and integrated multi-omics Insights into Rare Genetic Diseases: From Discovery to Clinical Translation.

By gathering innovative studies and expert insights, this Special Issue of Rare Disease and Orphan Drugs Journal (RDODJ) aims to advance the basic understanding, diagnosis, treatment and prevention of rare genetic diseases, ultimately improving outcomes for affected patients and families. Rare genetic diseases, while individually uncommon, collectively affect millions of individuals and place a significant burden on patients, families, and healthcare systems. Owing to their heterogeneity and complexity, many rare disorders remain underdiagnosed or misdiagnosed, delaying effective clinical management. Over the past decade, rapid advances in genomic technologies—including next-generation sequencing, whole-exome and whole-genome sequencing, and integrative multi-omics—have transformed our ability to uncover disease-causing variants, elucidate pathogenic mechanisms, and accelerate progress toward precision medicine.

The translation of these genomic insights into clinical practice has led to improved diagnostic yield, shortened diagnostic odysseys, and identified therapeutic targets that were previously unrecognized. At the same time, functional genomics, systems biology, and computational modeling are enabling researchers to connect genetic alterations with disease mechanisms, while international collaborations and data-sharing initiatives are expanding our capacity to study rare disorders at scale. Despite these advances, challenges remain in interpreting variants of uncertain significance, understanding genotype–phenotype relationships, and ensuring equitable access to genomic medicine.

This Special Issue in RDODJ, “Genomic and Integrated Multi-omics Insights into Rare Genetic Diseases: From Discovery to Clinical Translation,” provides a platform to showcase cutting-edge research and perspectives across the continuum from basic discovery to clinical implementation. Potential topics include, but are not limited to:
● Novel disease gene and variant discoveries;
● Functional genomics and molecular mechanisms of rare disorders;
● Multi-omics integration and systems-level approaches;
● Advances in diagnostic sequencing and bioinformatics;
● Genotype–phenotype correlations and natural history studies;
● Translational research and precision therapies;
● Ethical, legal, and social implications of genomic medicine.

Rare genetic diseases, genomic technologies, multi-omics, precision medicine, variant interpretation