About this Research Topic
The purpose of this Research Topic is to bring together leading researchers, non-profit organizations, healthcare providers/diagnostic companies, and pharma/biotech/CROs in the field to provide a broad perspective on the latest advances, challenges, and opportunities in rare disease research.
A genomic approach to rare disease research is becoming the key to discovering unknown causes behind these syndromes. Genomic rare disease research has attracted not only academic researchers but also researchers from the biotech/pharma and non-profit organizations. The breadth and depth of current genomic approaches in rare disease is largely unexplored. While the creation of novel CRISPR mouse models and the use of NGS (ChIP Seq, RNA Seq, etc) have become more routine for fields such as oncology, rare disease researchers are now making advances in modifying and applying these approaches for rare diseases. This editorial will provide a fruitful platform for rare disease researchers to share their findings and advance the field of genomics research in the rare disease space.
This Research Topic welcomes contributions in the areas including the following:
- Advances in methodologies/technologies and genetic analyses for identifying and studying rare genetic disorders, ranging from novel bioinformatics platforms to CRISPR mouse models
- Case/clinical studies and progress on specific rare disorders such as Vici Syndrome, Sanfilippo Syndrome, Congenital Melanocytic Nevus (CMN), Opitz C syndrome, Weaver syndrome, and many others
Keywords: Rare disease, Genomics, Next generation sequencing, transgenic, genetic analysis
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.