While rare diseases are rare, there are around 10,000 different types of rare diseases and collectively this affects a large number of people. With more than 80% of these rare diseases having underlying genetic causes, it’s especially important to identify these genetic factors to tailor therapies and treatments to the people living with distinct disorders. And yet, it’s not uncommon to hear about the “diagnostic odyssey” that many in the rare disease community go through just to get a definite diagnosis. Neurogeneticist Dr Azlina Ahmad Annuar shares just how far we’ve come in identifying these genetic causes of rare diseases and how far more we have to go to make diagnoses of rare diseases easier.

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