Medical care of rare and undiagnosed diseases: Prospects and challenges

Area of Science:

• Genetics and Genomics
• Translational Medicine
• Disease Modeling

Background:

• Rare and undiagnosed diseases are characterized by diversity, misdiagnosis, and diagnostic difficulty, often leading to progressive, life-threatening conditions.
• A significant unmet need exists, as an estimated 95% of rare diseases currently lack approved therapeutic interventions.

Purpose of the Study:

• To review research progress, frontiers, and key scientific issues in the study of rare and undiagnosed diseases.
• To highlight advancements in understanding pathogenic mechanisms and developing precision medicine approaches.

Main Methods:

• Focus on disease-causing gene identification and functional analysis.
• Discuss the development of cellular, organoid, and animal models for mechanism validation.
• Review progress in disease subtyping, diagnosis, and treatment/drug screening strategies.

Main Results:

• Progress is being made in identifying genetic causes and developing models for rare diseases.
• New technologies are emerging to aid in the study and diagnosis of these conditions.
• The review synthesizes current knowledge on pathogenic mechanisms and precision medicine.

Conclusions:

• Addressing rare and undiagnosed diseases requires integrated approaches spanning gene discovery to therapeutic development.
• Continued innovation in technology and methodology is crucial for advancing the field and improving patient outcomes.
• Precision medicine holds promise for developing targeted therapies for previously untreatable rare conditions.