Advanced Genomic Techniques for Congenital Adrenal Hyperplasia

The field of congenital adrenal hyperplasia (CAH), a group of inherited endocrine disorders affecting adrenal gland function, has witnessed remarkable advancements with the advent of next-generation sequencing (NGS) and CRISPR-Cas9 gene editing technologies. Traditionally managed with hormone replacement therapies, CAH treatments often come with varying levels of success and patient satisfaction. Recent breakthroughs in genomic science offer an unparalleled opportunity to uncover the genetic complexities underlying CAH and explore innovative therapeutic strategies tailored to individual needs.

This Research Topic aims to explore the full potential of advanced genomic technologies, such as NGS and CRISPR-Cas9, in the diagnosis, management, and possibly the cure of congenital adrenal hyperplasia. By leveraging these technologies, the goal is to develop a deeper understanding of the genetic underpinnings of CAH and to evaluate the feasibility of gene editing as a therapeutic option. This includes assessing the efficiency, accuracy, and long-term outcomes of gene editing interventions in preclinical and clinical settings.

To gather further insights into the boundaries of genetic research on CAH, we welcome articles addressing, but not limited to, the following themes:


• Comprehensive genomic profiling of CAH variants and their impacts
• CRISPR-Cas9 and other gene editing technologies as potential treatments for CAH
• Identification and validation of novel genetic or epigenetic biomarkers for CAH diagnosis and prognosis
• Preclinical and clinical studies evaluating gene therapy approaches for CAH

These explorations will contribute to a better understanding of the genetic basis of congenital adrenal hyperplasia and open new pathways for innovative therapeutic strategies

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Case Report
• Clinical Trial
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Case Report
• Clinical Trial
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Policy and Practice Reviews
• Review
• Study Protocol
• Systematic Review
• Technology and Code

Keywords: Congenital Adrenal Hyperplasia, Genetic, Diagnosis, Treatment, Gene Therapy

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.