Spotlight on: Rare diseases
Rare diseases are diseases that affect fewer than five in 10,000 people. But there are many who are affected - in total there are about as many patients with rare diseases as diabetics. Thanks to technical development and collaboration between researchers around the world, more and more people can now get a diagnosis and at best help.
More and more people with unusual diseases are diagnosed
In just a few years, researchers have obtained tools to diagnose a large number of diseases that were previously unknown. Now the hope is that this diagnostic revolution will also lead to new treatments.
It’s wonderful to see what cooperation can achieve
When Lise was 25, she went to an optician to get contact lenses, but was referred to an eye specialist and soon she was diagnosed with Marfan syndrome, a connective tissue disorder.
I am constantly on standby
Nicoleta Eserblom's daughter Maria has the disease chereditary angioedema, which is caused by the lack of a certain protein in the body and leads to swelling when the capillaries leak fluid into tissues. It took several visits to the emergency room, until she finally was given the diagnosis.
Wants to provide the right type of support to patients with rare syndromes
Three questions to Charlotte Willfors, psychologist and researcher in the Rare Diseases groups at ̽»¨¾«Ñ¡. In the project UNIKA, she studies patients with rare syndromes with the goal of being able to help them have a better life.
Promising results for new acute porphyria treatment
Acute porphyria is a group of uncommon diseases that can cause severe, potentially life-threatening attacks of abdominal pain, nausea, and paralysis. Liver transplantation is currently the only effective treatment available. A new drug candidate can prevent attacks in these patients.