Hong Kong Genome Institute 香港基因組中心

Some patients and their families once described that the long search for the cause of their diseases is like floating and sinking in a vast ocean, adrift and exhausted. It is only when the cause is identified that they could disembark and settle down, forging ahead with appropriate medical treatment.

Indeed, for patients with undiagnosed diseases or hereditary cancers and their families, looking for the cause of the disease is as difficult as finding a needle in a haystack. Through conducting Whole Genome Sequencing and analysis of different genomes, there stands a chance to discover the potential disease-causing genetic variants, shedding light on treatment plans while bringing hope to patients and their families.

Let’s take a look at how some patients found their way to “see the unseen” – identified the causes of their diseases and live their lives to the fullest.