Show your support for rare
Today is #RareDiseaseDay!
Our team wants to support the rare disease community by raising awareness on efforts that give hope to rare disease patients around the world. On social media, the community is coming together to show support for rare. Rare Disease Day is for everyone – the general public, rare disease patients, their families, carers, healthcare professionals, researchers and companies.
Join the discussion #RareDiseaseDay #ShowYourRare
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.
The diagnostic odyssey of ultra-rare diseases: a patient’s perspective
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.
“For 10 years, I was diagnosed with multiple sclerosis (MS) until it was changed to Autoimmune Encephalitis. I am still hoping to get genetic testing done to confirm my diagnosis”, Salonen says.
Understanding the genetic cause of a disease helps doctors treat their patients and helps researchers create new treatments.
We believe that being fully transparent about our successes, challenges and limitations is key to making effective, powerful diagnostic tools available to the rare disease community.
Access educational webinars
Past webinars include:
- Genetic Testing to enhance the value of a patient registry – A case study in the Inherited Retinal Dystrophies
- Getting the most from exomes
- Shedding light on complex regions in genetics
- Utility of Genetic Testing and Application to Immune-Related Disorders
- Raising the Bar: What to Expect from Cardiovascular Genetic Testing in 2018
- Understanding Variants of Uncertain Significance