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

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

Rare diseases, often referred to as orphan diseases, affect a small percentage of the population but collectively impact millions of lives worldwide. In India, where healthcare challenges are already multifaceted, rare diseases remain a largely overlooked public health crisis. Prof. Ramaiah Muthyala, a globally recognized expert in rare diseases and orphan drug development, has been a vocal advocate for addressing this pressing issue in India. His insights shed light on the urgent need for a comprehensive strategy to tackle the challenges posed by rare diseases in the country.

### The Scope of the Problem

A rare disease is typically defined as a condition that affects fewer than 1 in 2,000 individuals. However, with over 7,000 known rare diseases globally, the cumulative impact is significant. In India, it is estimated that 70 million people suffer from rare diseases, a staggering number that underscores the need for immediate attention. Conditions such as lysosomal storage disorders, Duchenne muscular dystrophy, spinal muscular atrophy, and Gaucher disease are just a few examples of the rare diseases affecting Indian patients.

Despite the high prevalence, rare diseases in India are often underdiagnosed or misdiagnosed due to a lack of awareness, inadequate diagnostic infrastructure, and limited access to specialized care. This results in delayed treatment, significant emotional and financial burdens on families, and, in many cases, preventable deaths.

### Insights from Prof. Ramaiah Muthyala

Prof. Ramaiah Muthyala, a distinguished scientist and advocate for rare disease research, has been at the forefront of raising awareness about this neglected health crisis. According to him, the challenges surrounding rare diseases in India are multifaceted and require a multi-pronged approach.

1. **Lack of Awareness and Education**
Prof. Muthyala emphasizes that one of the biggest barriers to addressing rare diseases in India is the lack of awareness among healthcare professionals and the general public. “Many doctors in India are not trained to recognize the symptoms of rare diseases, leading to misdiagnosis or delayed diagnosis,” he explains. He advocates for incorporating rare disease education into medical curricula and conducting awareness campaigns to improve early detection.

2. **Inadequate Policy Framework**
While India introduced the National Policy for Rare Diseases (NPRD) in 2021, Prof. Muthyala points out that its implementation has been slow and insufficient. “The policy is a step in the right direction, but it lacks clarity on funding mechanisms, patient support, and the role of state governments,” he notes. He calls for a more robust and well-funded policy framework that prioritizes research, diagnosis, and treatment.

3. **High Cost of Treatment**
The treatment for rare diseases is often prohibitively expensive, as it involves specialized drugs, known as orphan drugs, which are not widely available in India

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