“India Urged to Address the Neglected Public Health Challenge of Rare Diseases: Insights from Prof. Ramaiah Muthyala”

**India Urged to Address the Neglected Public Health Challenge of Rare Diseases: Insights from Prof. Ramaiah Muthyala**

Rare diseases, often referred to as orphan diseases, represent a significant yet underappreciated public health challenge globally. In India, where healthcare priorities are often dominated by infectious diseases and non-communicable diseases (NCDs), rare diseases remain on the periphery of policy discussions. Prof. Ramaiah Muthyala, a globally recognized expert in rare diseases and orphan drug development, has been a vocal advocate for addressing this neglected issue in India. His insights shed light on the urgent need for a comprehensive strategy to tackle rare diseases in the country.

### **Understanding Rare Diseases**

Rare diseases are conditions that affect a small percentage of the population. Globally, there are over 7,000 identified rare diseases, with 80% of them having a genetic origin. These diseases often manifest early in life, are chronic, and can be life-threatening. Examples include Duchenne muscular dystrophy, Gaucher disease, and Pompe disease. While each rare disease affects a small number of individuals, collectively, they impact millions worldwide.

In India, the definition of a rare disease is still evolving. The Ministry of Health and Family Welfare defines rare diseases as conditions that affect fewer than 1 in 2,500 individuals. However, due to the lack of a centralized registry and limited epidemiological studies, the true burden of rare diseases in India remains unknown. Estimates suggest that over 70 million Indians may be living with a rare disease, making it a significant public health concern.

### **Challenges in Addressing Rare Diseases in India**

Prof. Muthyala highlights several challenges that hinder the effective management of rare diseases in India:

1. **Lack of Awareness**: Rare diseases are often misunderstood or misdiagnosed due to limited awareness among healthcare professionals and the general public. This leads to delayed diagnoses and suboptimal treatment.

2. **High Cost of Treatment**: Many rare diseases require specialized treatments, including enzyme replacement therapies and gene therapies, which are prohibitively expensive. For instance, the cost of treating a single patient with spinal muscular atrophy (SMA) can run into crores of rupees annually.

3. **Limited Research and Development**: India has a nascent ecosystem for rare disease research. The lack of investment in orphan drug development and clinical trials further exacerbates the problem.

4. **Inadequate Policy Framework**: While the Indian government introduced the National Policy for Rare Diseases (NPRD) in 2021, its implementation has been slow. The policy aims to provide financial support for the treatment of rare diseases, but the allocated budget is insufficient to meet the growing demand.

5. **Social and Emotional Burden**: Families of patients with rare diseases often face stigma, isolation, and financial distress. The lack of support networks and counseling services adds to their challenges.

### **Prof. Muthyala

• Source Link: https://platohealth.ai/india-should-focus-on-critical-overlooked-public-health-crisis-posed-by-rare-diseases-prof-ramaiah-muthyala/