Monogenic diseases in India

Area of Science:

• Genetics and Genomics
• Rare Diseases
• Public Health in India

Background:

• Monogenic diseases offer insights into gene function but understanding specific gene involvement and mutation patterns remains challenging.
• Despite scientific advancements, the precise mechanisms underlying gene-specific disease manifestation and mutation occurrence are not fully elucidated.
• Many monogenic diseases are lethal, posing significant public health concerns, particularly in regions with high incidence and limited interventions.

Purpose of the Study:

• To compile a comprehensive list of monogenic diseases reported in India.
• To highlight five monogenic diseases with the highest incidence in India.
• To assess current research, available treatments, and identify gaps for high-incidence monogenic diseases in India.

Main Methods:

• Literature review of reported monogenic diseases in India.
• Focus on diseases with the highest reported incidence.
• Comparative analysis of research and treatment availability in India versus globally.

Main Results:

• Identification of numerous monogenic diseases reported in India.
• Detailed examination of five high-incidence monogenic diseases.
• Analysis reveals limited research and treatment options for these conditions in India compared to global standards.

Conclusions:

• India faces a high burden of monogenic diseases with insufficient research and therapeutic strategies.
• There is a critical need to develop and implement targeted treatment strategies to reduce mortality and morbidity.
• Enhanced focus on genetic research and accessible treatments is crucial for managing these rare but severe conditions in India.