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Investing in medical innovation: rare diseases

UZ Leuven has always championed the research into and care of patients with a rare disorder. The search for a treatment of rare diseases is not only a challenge in terms of medical innovation, but is also part of the social task of a third-line hospital.

In a lot of our hospital departments there are experts on rare diseases such as porphyria, pulmonary hypertension, cystic fibrosis, haemophilia, immune disorders, systemic diseases, metabolic disease or neuromuscular diseases. 

To give our patients with a rare disease the best possible care and the newest treatment, UZ Leuven joined the European reference network for rare diseases, in which 900 medical team from across European join forces for the treatment and diagnosis of rare diseases. UZ Leuven is involved in 19 of the 24 Europeand networks for rare diseases. 

Discovery of new genetic defect explains rare disease

8 May 2019
Researchers at the Centre for Human Genetics and Sussex University have identified a genetic defect on the POLA1 gene which lies at the root of a rare syndrome. The disorder, which only affects males, is associated with growth disorders, smaller brains and learning disabilities.
Last edit: 16 March 2021