For all of us at Blueprint Genetics, #RareDiseaseDay is a time for us to reflect on all of the people impacted by the rare genetic disorders we test for. On social media, the community is coming together to show support for rare.
Rare Disease Day is for everyone – the general public, patients with rare diseases, their families, caregivers, healthcare professionals, researchers and companies.
In 1998, Satu Salonen retired from her position as the head of an IT company and began her diagnostic odyssey. It took over five years to find a treatment that helps her cope with her own rare disease. She is now the president of the Finnish Association for Ultra Rare Diseases.
“I was considered an ultra-rare, one in a million patient. But as diagnostic testing improves, more patients are identified. These diseases have always existed, now we just have a name for them as we understand more about them and their genetic cause”
- Common Myths About Genetic Testing
- Inborn Errors of Immunity: The Growing Role of Genetics
- Keeping Pace: The Importance of a Shared Care Approach to Inherited Cardiovascular Disease
- Genetic Testing for Individuals with Kidney Disease: Updates and Clinical Utility
- Introducing an open access genetic testing program for patients with inherited retinal degeneration
- How to solve challenging cases? Part II
- What it actually takes to make a genetic test
- How to solve challenging cases? Part I
- What if it’s a VUS?
Rare diseases include thousands of different disorders with different genetic causes. Genetic testing and diagnosis is an important part of rare disease management.
Our mission is to support healthcare professionals around the world in providing the best care for patients and families with rare inherited diseases.
Join us to raise awareness by telling your story, sharing an experience or photo on social media on February 29th.