Giving a voice to rare disease
Nearly 400 million people (around 1 in 20 people) are globally affected by a rare disease. Many individuals with a rare disease face various challenges in finding an accurate and timely diagnosis and treatment. Only 50% of people with a rare disorder successfully receive precise analysis. The hard work and commitment of rare disease researchers and the medical community is helping to ease this burden on patients. Recent advancements in next-generation sequencing (NGS) technologies, especially whole-exome sequencing, pave the way to a brighter future by detecting disease-linked variants in record time.
With research, rare disease diagnosis and treatment possibilities are limitless.