About

• A rare disease is a disease that affects a small percentage of the population. 
• a rare disease also means there is a lack of a market large enough to gain support and resources for discovering treatments for it
• Most rare diseases are genetic in origin and thus are present throughout the person’s entire life, even if symptoms do not immediately appear.
• Global Genes has estimated that currently approximately 10,000 rare diseases exist globally, with 80% of these having identified genetic origins.
• About 95% rare diseases have no approved treatment and less than 1 in 10 patients receive disease-specific treatment.
• India has close to 50-100 million people affected by rare diseases or disorders
• Examples of rare diseases are  Lysosomal Storage Disorders (LSD), Pompe disease, cystic fibrosis, muscular dystrophy, spina bifida, hemophilia etc.

National policy for treatment of rare diseases

• The Government has launched National Policy for Rare Diseases (NPRD), 2021 in March, 2021 for the treatment of rare disease patients
• The rare diseases have been identified and categorized into 3 groups namely Group 1, Group 2 and Group 3.

Group 1:  Disorders amenable to one-time curative treatment.

Group-2: Diseases requiring long term/lifelong treatment having relatively lower cost of treatment and benefit has been documented in literature and annual or more frequent surveillance is required.

Group 3:– Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost and lifelong therapy.

• Provision for financial support of up to Rs. 50 lakhs to the patients suffering from any category of the Rare Diseases and for treatment in any of the Centre of Excellence (CoE) mentioned in NPRD-2021, outside the Umbrella Scheme of Rashtriya Arogaya Nidhi.
• Eight (08) Centres of Excellence (CoEs) have been identified for diagnosis, prevention and treatment of rare diseases.
• Five Nidan Kendras have been set up for genetic testing and counselling services. 

• The NPRD, 2021 has provisions for promotion of research and development for diagnosis and treatment of rare diseases; promotion of local development and manufacture of drugs and creation of a conducive environment for indigenous manufacturing of drugs for rare diseases at affordable prices.
• The Department of Pharmaceuticals has initiated the implementation of the Production Linked Incentive Scheme for Pharmaceuticals. 

Why in news

• The Delhi High Court has sought the presence of the Secretary, Union Ministry of Health, for non-compliance of its directions to release Rs 5 crore for the treatment of rare diseases in children

https://indianexpress.com/article/cities/delhi/treatment-of-kids-with-rare-diseases-delhi-hc-summons-health-secretary-8594169/