‘World Rare Disease Day’ Conference

  • Union Minister for Health & Family Welfare, Shri J.P. Nadda on 28 February inaugurated the one-day Conference to mark “World Rare Disease Day” in New Delhi. 
  • A newsletter published by the “Indian Organization of Rare diseases” was also released on the occasion.   

About World Rare Disease Day

  • World Rare Disease Day takes place on the last day of February each year. 
  • World Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008.  
  • Objective: The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.
  • The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases
  • What are Rare Diseases?
  • In European Union (EU) countries, any disease affecting fewer than 5 people in 10 000 is considered rare.
  • Most patients suffer from diseases affecting 1 in 10 000 or less.
  • According to the European Medicines Agency, there are between 5000 and 8000 distinct rare diseases in the EU, affecting between 27 and 36 million people.
  • Rare diseases range from cystic fibrosis and haemophilia to Angelman Syndrome, with an incidence of about 1 in 15 000, to Opitz trigonocephaly syndrome, which is extremely rare with about one case per million people.

What is IRDiRC?

  • The European Commission is behind the ‘International Rare Disease Research Consortium’ also known as IRDiRC, pronounced ‘ear-dirk’, an ambitious international effort to pool resources and harmonize policy to promote research.
  • Launched in April 2011, the Consortium started out as a joint project of the European Commission and the National Institutes of Health in the United States of America; but since then other countries have become involved, including Canada and Japan.
  • It aims to bring together regulatory agencies, researchers, patient group representatives, members of the biopharmaceutical industry and health professionals, and among the objectives that it has publicly set is the generation of 200 new therapies for rare diseases and diagnostic tools for most rare diseases by 2020.

Rare Diseases in India

  • It is estimated that globally around 6000-8000 rare diseases exist. However, 80% of all rare disease patients are affected by approximately 350 rare diseases. 
  • So far about 450 rare diseases have been recorded in India from tertiary care hospitals.
  • Lack of epidemiological data on incidence and prevalence of rare diseases impedes understanding of the extent of the burden of rare diseases in India. 
  • Indian Rare Disease Registry: Recognizing the need to gather epidemiological data, Indian Council of Medical Research has recently launched ‘Indian Rare Disease Registry’ for certain rare diseases, including Thalassemia and Sickle Cell Anemia.
  • An estimated number of 1,20,000 to 1,50,000 patients are affected by Sickle Cell Disease in India with 20-35% carrier rate in tribals and other backward communities. 
  • The estimated number of beta Thalassemia cases is 1,00,000 to 1,20,000 with a carrier rate of 3-4% in overall population.
  • Diagnosis: Diagnosis facilities are available for screening, control and management of Hemoglobinopathies (Thalassemia, Sickle Cell disease) disorders. However, no study has been conducted on the diagnosis rate of other rare diseases in India.
  • International data indicates that diagnosis of a rare disease may take upto several years.
  • According to a recent report, it takes patients in the United States (USA) an average of 7.6 years and patients in United Kingdom (UK) an average of 5.6 years to receive an accurate diagnosis.
  • Challenges to India: Rare diseases poses a challenge to public health systems globally and more so in developing countries like India. 
  • Lack of epidemiological data, difficulty in conducting pan India epidemiological studies for each rare disease, challenges in diagnosis and management of rare diseases, challenges in research and development of drugs and diagnosis modalities, unavailability of treatment, the exorbitant cost of drugs for treating rare diseases etc. are a big challenge.
  • No Vaccines Available: Majority of rare diseases are inherited diseases and not treatable by vaccine. 
  • Also no vaccines are currently available for treatment of rare diseases. 
  • Some diseases like Sickle Cell anemia may be benefitted by pneumococcal vaccine in addition to the vaccines routinely recommended. These vaccines are provided free of cost by the States.
  • Jai Vigyan Project: ICMR, through its flagship projects like ‘Jai Vigyan’ has covered all aspects of overall diagnosis, training, awareness and management of Hemoglobinopathies in India and through the tribal health forum projects, the same has been extended to specific tribal groups in Maharashtra, Gujarat and Madhya Pradesh.
  • ICMR and other Government funding agencies also promote active research in these areas through various intramural and extramural research programmes.
  • National Policy for treatment of Rare Diseases in India: The Ministry of Health and Family Welfare has also formulated a National Policy for treatment of Rare Diseases in India to progressively build India’s capacity to respond comprehensively to rare diseases. 
  • On the whole, the Policy seeks to strike a balance between the interest of patients of rare diseases and health system sustainability.
  • ICMR has established 2 Centres of excellence of primary immune- deficiencies (PIDs) one at PGIMER, Chandigarh and one at ICMR-NIM, Mumbai for improving diagnostic facilities for PIDs and understanding their prevalence and pattern in India. 
  • Under NHM, States/UTs are also being supported for prevention and control and management of Thalassemia & sickle cell.

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