• An Overview Of Three Genetic Rare Diseases In The Iranian Population
  • Seyed Abolhassan Shahzadeh Fazeli,1,* Mehdi Norouzi,2 Saeideh Mahdipoor ,3 Seyedeh Parisa Chavoshi Tarzjani,4 Parvin Bakhtyari,5
    1. Departments of Molecular and Cellular Biology, Faculty of Basic Sciences and Advanced Technologies in Biology, University of Science and Culture, Tehran, Iran and Iranian Biological Resource Center (IBRC), ACECR, Tehran, Iran
    2. Hepatitis B Molecular Laboratory, Department of Virology, School of Public Health, Tehran University of Medical Sciences
    3. Iran University of medical Sciences, Tehran, Iran
    4. Department of Genetic, Faculty of Biological Sciences, Tehran North Branch, Islamic Azad University, Tehran, Iran
    5. Department of health technology assessment, Tehran University of medical Sciences, Tehran, Iran


  • Introduction: A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000 while in the USA is affects fewer than 200,000 Americans and in Iran, it affects 1-5 per 100,000. About Four thousand and fifty patients in the United States are living with a rare disease. This is the first prevalence overview on the rare diseases as Cystic Fibrosis (CF), Duchenne Muscular Dystrophy (DMD) and Huntington Disease (HD), in Iran.
  • Methods: Despite access restriction to research data, further investigations about rare diseases are continuously on the run in this country. Improving the ability to conduct research on rare diseases, would have a significant impact on the population healthcare system. The aim of this study is to determine the prevalence of three genetic rare diseases in Iran. The only outsourcing reference was adopted from the Rare Diseases Foundation of Iran’s (RADOIR) diagnostic patient case studies.
  • Results: There are 7 cases of Huntington disease, 48 cases of cystic fibrosis and 1 case of Duchenne Muscular Dystrophy registered at Rare Diseases Foundation of Iran. The prevalence rate of all of them approximately was 1 per 100,000. Tehran was the city with the highest rates.
  • Conclusion: Our findings suggest that in Iran, the prevalence of this three genetic rare diseases does not differ from other areas, but due to the limitations in identifying all patients, the results of this study are expected to change. The prevalence rate of these diseases is similar to that of the global average one.
  • Keywords: the rare disease, Cystic Fibrosis, Duchene muscular dystrophy, Huntington’s disease, Iranian population