About this Research Topic
Rare diseases encompass a wide range of over 7,000 distinct conditions that affect a relatively small number of individuals. While each condition may be uncommon on its own, collectively they impact the lives of approximately 300 million people worldwide. These disorders can manifest in diverse ways, affecting various organ systems, and potentially resulting in chronic pain, disability, and shortened lifespans. Moreover, the challenges patients and their families face extend far beyond the physical symptoms, encompassing emotional, financial, and social burdens that can be isolating and overwhelming.
The complexity inherent in rare diseases poses one of their most daunting aspects. With such a vast array of conditions falling under this umbrella term, comprehending and diagnosing these disorders can be difficult and time-consuming. The scarcity of research, limited treatment options, and a shortage of specialized medical professionals well-versed in specific diseases further exacerbate patients' hardships. Consequently, the path to diagnosis can be fraught with misdiagnoses, delays, and pervasiveness of uncertainty, intensifying the distress experienced by individuals. Moreover, the relative scarcity of rare diseases often results in inadequate attention and funding. This resource disparity hampers research endeavors and impedes the development of innovative treatments and therapies that have the potential to improve lives significantly.
The aim of this research topic is first to focus on understanding and providing more insights into the field of rare diseases. The topic is open for transdisciplinary exchange from basic science to clinical practice.
Contributions are welcome that include, but are not limited to, the following topics:
Basic science:
-Pathophysiological mechanisms of the diseases
-Experimental models of rare disease
-Different drug testing
-Translational science from animal models to humans
Clinical practice:
-Rare disease cases
-Application of different new medications, outcomes, long-term and side effects
-Innovative clinical solutions, diagnostics methods, different novel biomarkers
-Different prognostic models on disease detection, outcomes, etc.
-Neonatal screening
-Clinical patient pathways
Other
-Patient or their relative's quality of life etc.
Original research papers, clinical studies, reviews, clinical cases, and clinical case series are invited.
All papers should be submitted through Frontiers in Pediatrics, except for public health-related papers which should be submitted via Frontiers in Public health.
The complexity inherent in rare diseases poses one of their most daunting aspects. With such a vast array of conditions falling under this umbrella term, comprehending and diagnosing these disorders can be difficult and time-consuming. The scarcity of research, limited treatment options, and a shortage of specialized medical professionals well-versed in specific diseases further exacerbate patients' hardships. Consequently, the path to diagnosis can be fraught with misdiagnoses, delays, and pervasiveness of uncertainty, intensifying the distress experienced by individuals. Moreover, the relative scarcity of rare diseases often results in inadequate attention and funding. This resource disparity hampers research endeavors and impedes the development of innovative treatments and therapies that have the potential to improve lives significantly.
The aim of this research topic is first to focus on understanding and providing more insights into the field of rare diseases. The topic is open for transdisciplinary exchange from basic science to clinical practice.
Contributions are welcome that include, but are not limited to, the following topics:
Basic science:
-Pathophysiological mechanisms of the diseases
-Experimental models of rare disease
-Different drug testing
-Translational science from animal models to humans
Clinical practice:
-Rare disease cases
-Application of different new medications, outcomes, long-term and side effects
-Innovative clinical solutions, diagnostics methods, different novel biomarkers
-Different prognostic models on disease detection, outcomes, etc.
-Neonatal screening
-Clinical patient pathways
Other
-Patient or their relative's quality of life etc.
Original research papers, clinical studies, reviews, clinical cases, and clinical case series are invited.
All papers should be submitted through Frontiers in Pediatrics, except for public health-related papers which should be submitted via Frontiers in Public health.
Keywords: rare disease, genetic, precision medicine, clinical, research, pediatric, child
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.
