About this Research Topic
There are between 6,000 to 10,000 rare genetic diseases currently without a cure. The lack of knowledge of disease biology, the challenge of diagnosing it, and the absence of treatments pose a great burden on the patients and their families. Prophylactic treatments, when available, address only the symptoms and not the root cause of the disease, thus offering limited therapeutic benefits. Scientific progress in the combined areas of genome sequencing and precision medicine offers unique opportunities to map out a practical targeted therapeutic approach for rare and ultra-rare diseases that begins with identifying the pathogenic mutation, assessing the impact it has on the perturb mechanism, and reversing it.
Precision medicine has the potential to offer a curative therapeutic outcome with limited or no toxicity. It is designed to be unique to the patient’s genetic and immunological background and to address the root molecular cause of the disease. With the advent of CRISPR/Cas9 technology, significant progress has been made in applying it toward correcting pathogenic mutations using patient-derived cells (primary cells and iPSC). Some of these innovative therapies are advancing to first-in-human clinical trials thus bringing hope for a cure to previously incurable diseases.
The goal of this Research Topic is to review the latest advances in diagnosis, characterizing disease state and mechanism, and the path towards developing the first curative therapies using genome editing for rare and ultra-rare genetic diseases afflicting the immune, blood, metabolic, skin, and neuromuscular development. Invited authors will be experts in their fields and will provide reports of recent advances in their research group and in the field.
The scope will be a series of articles addressing the advancement in genome sequencing and genome editing to:
• Diagnose rare and ultra-rare diseases
• Develop model systems to study disease biology
• Design rationale and test innovative therapies
• Clinical outcomes
• Hurdles to reach clinical stage
• Advances made in precision medicine (genome editing) application through rare diseases
Articles may be novel, unpublished research findings, or reviews.
Precision medicine has the potential to offer a curative therapeutic outcome with limited or no toxicity. It is designed to be unique to the patient’s genetic and immunological background and to address the root molecular cause of the disease. With the advent of CRISPR/Cas9 technology, significant progress has been made in applying it toward correcting pathogenic mutations using patient-derived cells (primary cells and iPSC). Some of these innovative therapies are advancing to first-in-human clinical trials thus bringing hope for a cure to previously incurable diseases.
The goal of this Research Topic is to review the latest advances in diagnosis, characterizing disease state and mechanism, and the path towards developing the first curative therapies using genome editing for rare and ultra-rare genetic diseases afflicting the immune, blood, metabolic, skin, and neuromuscular development. Invited authors will be experts in their fields and will provide reports of recent advances in their research group and in the field.
The scope will be a series of articles addressing the advancement in genome sequencing and genome editing to:
• Diagnose rare and ultra-rare diseases
• Develop model systems to study disease biology
• Design rationale and test innovative therapies
• Clinical outcomes
• Hurdles to reach clinical stage
• Advances made in precision medicine (genome editing) application through rare diseases
Articles may be novel, unpublished research findings, or reviews.
Keywords: Orphan diseases, Precision medicine, Genome editing, Prime editing, Hematopoietic stem, progenitor cells
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.
