About this Research Topic
The complex molecular underpinnings of genetic and rare diseases offer a promising avenue for scientific exploration and innovation. This research topic explores the intricate molecular mechanisms driving these conditions, underlining the latest developments in diagnostic methodologies and therapeutic approaches. Due to the rapid advancement in molecular diagnostics, including Next-Generation Sequencing, our insights into rare and genetic diseases have expanded significantly.
Through this research topic, our aim is to uncover genetic and molecular mechanisms driving the onset and progression of genetic and rare diseases, with a particular focus on unraveling actionable therapeutic targets. By integrating advanced molecular biology methods, including Next-Generation Sequencing, CRISPR, and other cutting-edge technologies, this topic emphasizes the development of novel therapeutic approaches. The goal is to translate these molecular insights into innovative, personalized therapies that address the specific challenges of genetic and rare diseases, ultimately improving patient outcomes and advancing the field of precision medicine.
This Research Topic addresses significant challenges in accurately diagnosing and effectively treating genetic and rare diseases. Despite advances in molecular diagnostics, many of these conditions remain underdiagnosed or misdiagnosed, delaying crucial interventions. Recent developments in technologies like Next-Generation Sequencing have revolutionized our ability to detect genetic anomalies, but there is still a need to bridge the gap between these diagnostics and targeted therapeutic strategies. This topic seeks to explore how integrating advanced molecular tools with therapeutic innovations can lead to more precise and personalized treatments, ultimately improving outcomes for patients with genetic and rare diseases.
We welcome submissions of original research articles, in-depth reviews, case studies, and perspective pieces that advance the understanding of the genetic and molecular foundations of genetic and rare diseases. Contributions that explore novel diagnostic tools, therapeutic strategies, and translational research are particularly encouraged.
This Research Topic will cover a wide range of themes related to genetic and rare diseases, including but not limited to:
• Identification and characterization of novel genetic mutations and their clinical implications;
• Advances in molecular diagnostic technologies, including Next-Generation Sequencing and multi-omics approaches;
• Development of targeted therapies and personalized treatment strategies for rare and genetic disorders;
• Translational research bridging molecular diagnostics and therapeutic applications;
• Ethical and clinical considerations in the treatment of genetic and rare diseases.
Through this research topic, our aim is to uncover genetic and molecular mechanisms driving the onset and progression of genetic and rare diseases, with a particular focus on unraveling actionable therapeutic targets. By integrating advanced molecular biology methods, including Next-Generation Sequencing, CRISPR, and other cutting-edge technologies, this topic emphasizes the development of novel therapeutic approaches. The goal is to translate these molecular insights into innovative, personalized therapies that address the specific challenges of genetic and rare diseases, ultimately improving patient outcomes and advancing the field of precision medicine.
This Research Topic addresses significant challenges in accurately diagnosing and effectively treating genetic and rare diseases. Despite advances in molecular diagnostics, many of these conditions remain underdiagnosed or misdiagnosed, delaying crucial interventions. Recent developments in technologies like Next-Generation Sequencing have revolutionized our ability to detect genetic anomalies, but there is still a need to bridge the gap between these diagnostics and targeted therapeutic strategies. This topic seeks to explore how integrating advanced molecular tools with therapeutic innovations can lead to more precise and personalized treatments, ultimately improving outcomes for patients with genetic and rare diseases.
We welcome submissions of original research articles, in-depth reviews, case studies, and perspective pieces that advance the understanding of the genetic and molecular foundations of genetic and rare diseases. Contributions that explore novel diagnostic tools, therapeutic strategies, and translational research are particularly encouraged.
This Research Topic will cover a wide range of themes related to genetic and rare diseases, including but not limited to:
• Identification and characterization of novel genetic mutations and their clinical implications;
• Advances in molecular diagnostic technologies, including Next-Generation Sequencing and multi-omics approaches;
• Development of targeted therapies and personalized treatment strategies for rare and genetic disorders;
• Translational research bridging molecular diagnostics and therapeutic applications;
• Ethical and clinical considerations in the treatment of genetic and rare diseases.
Keywords: Rare Diseases, Genetic Diseases, Next-Generation Sequencing, Molecular Diagnostics, Clinical Genomics
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.
