Decrease in Orphan Diseases in India
The article sheds light on the issue of orphan diseases in India, which are rare diseases affecting a smaller section of the population. With advances in genomic technologies and increased awareness, the diagnosis and treatment of these diseases have improved. Various initiatives and policies have been put into place both globally and nationally to tackle these issues. Examples include incentives for the development of "orphan drugs" and various citizen initiatives like DART in India. In addition, leprosy, once widespread in India, is now classified as a rare disease thanks to extensive research and containment measures.
Definition and Challenges of Orphan Diseases
Orphan diseases are those that affect one in 10,000 people, and they present challenges for diagnosis and treatment. This is mainly because medical practitioners rarely come across such diseases, and therefore, not much research has been conducted for the treatment options.
Example: The young doctors often find it difficult to diagnose orphan diseases like lysosomal storage disorders because they may not have encountered even a single case during their medical training.
Advances in Genomic Technologies
With the advent of genomic technologies, it has become easier to diagnose these diseases. This technological advancement has led to an increase in research and development of treatments, particularly "orphan drugs."
Example: The FDA, between 2009 and 2014, approved half of all its medications for rare ailments and cancers. However, the cost of these therapies can range from ₹1 million to ₹20 million per year, making it financially challenging, particularly from an Indian perspective.
Initiatives by Groups
Various groups and organizations have come forward to raise awareness and contribute to research. The Government's National Policy for Treatment of Rare Diseases has also started making an impact.
Example: DART (Dystrophy Annihilation Research Trust), an organization founded by parents of Duchenne’s muscular dystrophy patients, has partnered with IIT and AIIMS in Jodhpur to begin clinical trials for effective treatments.
There is a lack of epidemiological data, making it difficult to ascertain the communities most affected by these diseases. By global estimates, India should have had around 70 million cases, but less than 500 have been reported.
Example: Diseases such as cystic fibrosis, hemophilia, and sicklecell anemia are known to occur but the exact numbers are not documented due to insufficient data collection mechanisms.
Case of Leprosy
Leprosy, previously a widespread disease in India, is now considered a rare disease. Research has led to a significant decline in its occurrence.
Example: Recent research has shown that a single dose of the synthetic antibiotic rifapentine could restrict the spread of leprosy among household relatives of a leprosy patient over a fouryear study period.
Despite advances in technology and increased awareness, orphan diseases continue to be a challenging healthcare issue. However, ongoing research, policy changes, and public initiatives are contributing towards a hopeful future for tackling these diseases effectively.