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Orphan Diseases in India: Challenges and Progress



  Sep 11, 2023

Orphan Diseases


Orphan diseases, often referred to as rare diseases, are medical conditions that occur very infrequently within a population. The most common definition of a rare disease is when its prevalence rate is one case in a population of 10,000 people. These diseases are called "orphans" for several reasons:

Rarity: They are rare, making them challenging to diagnose, especially for young medical practitioners who may not have encountered cases.

Limited Research: Historically, there hasn't been much research into these conditions due to their rarity, leading to a lack of effective treatments.

Limited Treatment Options: Due to limited research, there are often few or no treatment options available for orphan diseases.
 
  • However, the situation is changing with increased awareness of rare diseases and advancements in genomic technologies for diagnosis. Regulatory bodies in many countries now offer incentives to promote research and development of pharmaceuticals for these neglected illnesses, resulting in the emergence of "orphan drugs.

  • In recent years, there has been growing interest in orphan diseases, with a significant number of drug approvals by regulatory agencies for rare ailments and cancers. However, the costs of these therapies can be extremely high, posing challenges, particularly in countries like India.

  • Efforts to address orphan diseases include initiatives by both the government and citizen groups. In India, for instance, there is a National Policy for the Treatment of Rare Diseases. Citizen-driven initiatives like the Dystrophy Annihilation Research Trust (DART) have also made significant progress in developing treatments for rare conditions like Duchenne's muscular dystrophy.

  • Furthermore, research into orphan diseases can have broader societal benefits. For example, recent research on a synthetic antibiotic called rifapentine, originally used against tuberculosis, has shown promise in curbing the spread of leprosy when administered to household relatives of leprosy patients.

In summary, orphan diseases are rare conditions that have historically received limited attention, but increased awareness, research, and initiatives are gradually improving the outlook for patients with these conditions.

India

Orphan diseases, also known as rare diseases, affect individuals worldwide, including India. Despite their low prevalence, these diseases can have a profound impact on those affected and their families. Here are some examples of orphan diseases in India and the efforts to address them:
 
  • Duchenne's Muscular Dystrophy (DMD): This is a rare genetic disorder that causes progressive muscle degeneration and weakness. Parents of children with DMD in India formed the Dystrophy Annihilation Research Trust (DART). DART collaborates with institutions like the Indian Institutes of Technology (IIT) and the All India Institute of Medical Sciences (AIIMS) in Jodhpur to conduct clinical trials and develop personalized treatments for DMD.

  • Leprosy: Although leprosy is no longer highly prevalent in India, it is still considered a rare disease due to its low incidence rate. Research on leprosy in India has led to important findings, such as the effectiveness of the synthetic antibiotic rifapentine in preventing its transmission. This research contributes to the Indian government's goal of achieving a leprosy-free India by 2027.

  • Cystic Fibrosis: While less common in India compared to some other countries, cystic fibrosis is a rare genetic disorder that affects the respiratory and digestive systems. Awareness and diagnosis of this condition are increasing in India, and efforts are being made to provide better care and support for affected individuals.

  • Hemophilia: Hemophilia is another rare genetic disorder that affects the blood's ability to clot. Hemophilia support groups and organizations in India work to raise awareness, provide access to treatment, and improve the quality of life for individuals with hemophilia.

  • Lysosomal Storage Disorders: These are a group of rare inherited metabolic disorders. Efforts are being made to increase awareness and access to enzyme replacement therapies for these conditions in India.
 
While these examples represent a fraction of the rare diseases affecting people in India, they illustrate the growing recognition of orphan diseases and the efforts to improve diagnosis, treatment, and support for affected individuals and their families in the country.


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