Jahnavi Sarma
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Written By: Jahnavi Sarma | Published : February 29, 2020 3:21 PM IST
Rare diseases affect around 6 per cent of the total population in the world. Almost 72 per cent of these diseases are genetic but some are also the result of infections, allergies and environmental reasons. @Shutterstock
Today is World Rare Disease Day. This day is celebrated every year on the last day of February. The aim of this day is to raise awareness for people living with rare disease around the world and their families and care givers. The ultimate aim of this day is to achieve equitable access to diagnosis, treatment, health and social care and social opportunity for people affected by a rare disease. It provides people an opportunity to advocate for rare diseases as a human rights priority at local, national and international level and work towards a more inclusive society. First observed in 2008 by just 18 countries, today World Rare Disease Day is observed by more than 100 countries across the world.
Rare diseases affect around 6 per cent of the total population in the world. Almost 72 per cent of these diseases are genetic but some are also the result of infections, allergies and environmental reasons. About 70 per cent of those diseases start in childhood. In most cases, symptoms may differ in two people with the same disease. Though some of these conditions do not pose a threat to life, some are dangerous. No cure exists for any of these conditions and treatment is often based on symptoms.
According to researchers at Oregon Health & Science University, 'thousands of rare diseases cumulatively affect millions of people across the globe, yet because each case is so rare doctors struggle to accurately diagnose and effectively treat individual patients. Every time a patient with an unspecified disorder walks into a new clinic or shows up in an emergency room, doctors must start from scratch. The patients often go through years of such experiences before they ever get a diagnosis'.
The researchers say that they've come up with a way to characterize and define diseases. This will eventually be available to physicians across the globe. For years, patient advocacy groups and regulators have often cited an estimate that there are roughly 7,000 "rare" diseases. But researchers of this study say that this number may be undercounting by thousands. The journal Nature Reviews Drug Discovery published this study.
Another study at the University of Bonn says that artificial intelligence can diagnose rare diseases more efficiently and reliably. A neural network automatically combines portrait photos with genetic and patient data. The journal Genetics in Medicine published this study. This can lead to faster diagnosis and more efficient treatment.
