Rare Disease Day: Unprecedented diagnoses can be detected with increased use of genetic analysis

Published 26-02-2021

Sunday 28 February is the international Rare Disease Day, which is an international day of awareness for rare diseases and handicaps. The use of comprehensive genetic analysis, genome analysis, has a special potential in relation to the fact that novel diagnoses can be discovered.

CEO of the Danish National Genome Center Bettina Lundgren says:

“We hope that in the long run we can make more diagnoses – also for those who have never received an answer as to what they suffer from. This will not happen right away, because genetic analysis is already part of the routine diagnosis of rare diseases. However, with the Danish National Genome Center, we will analyse the full genetic material, the genome, and not as before only the parts that we know can be the cause of rare diseases. Our hope is that it will help us find unprecedented diagnoses in the future.”

Because rare diseases are one of the areas where a comprehensive genetic analysis, genome analysis, can make a difference, rare disease in children and adolescent were selected to be the first patient group to benefit from Denmark's new infrastructure for comprehensive genetic analysis.

“The Danish National Genome Center must help to ensure that in the future we become wiser about how we treat diseases, even the rare ones, in the best possible way – and what it takes to develop treatment for the diseases where there is no treatment today,” says Bettina Lundgren.

Watch the video about Niels and his family. Niels has a rare disease. Many thanks to Niels and his father and mother for coming forward and telling their story.

More information

Read about Rare Disease Day