What are Rare Diseases and it's common challenges?

The genetics community has a critical role to play in speeding up rare illness research and helping to improve diagnosis and treatment. While advances in sequencing technology and machine learning approaches have improved diagnostic success, more concerted efforts are required to progress toward effective medicines or perhaps solutions for these essential, yet often ignored, diseases.


More than 300 million individuals worldwide suffer from uncommon diseases, and for more than 90% of them, there are no licenced treatments. Because genetic causes roughly 80% of uncommon disorders, new developments in genomic sequencing technologies and molecular gene therapies have improved diagnosis and increased therapy options. Unified efforts spanning multiple stakeholders throughout rare illness communities should be supported to ensure that these advances benefit as many patients as feasible in an equitable manner.

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