28/02/2023
Unique Instruments and Science company (UIS) joins the world to mark the 2023 World Rare Disease Day.
A rare disease is a disease that affects a small percentage of the population
Rare diseases not only affect the person diagnosed – they also impact families, friends, and society as a whole. The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.
• The European Union considers a disease as rare when it affects less than 1 in 2,000 citizens.
• Over 6,000 different rare diseases have been identified to date.
• Rare diseases currently affect 3.5% – 5.9% of the worldwide population.
• 72% of rare diseases are genetic whilst others are the result of infections, allergies, and environmental causes.
With a global distribution of 3.5 - 5.9% according to research, it corresponds to about 50 million people in Africa, and we do not have adequate data to justify this as our genome is significantly underrepresented in reference and in disease-associated databases Lumaka et al., 2022.
Applying the NGS to shorten the diagnostic odyssey or to guide therapeutic options for rare diseases will fully work for Africans only when public repositories include sufficient data from African subjects.
contact UIS for more information on the NGS @ marketing@uniqueinstrumentsng.com
Tel: 09062977271, 09062977274
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