New perspective on DNA variations provides explanation for rare disease
This Rare Disease Day, we are showing our support for patients living with one of the 6,000 to 8,000 diseases that affect fewer than 1 in 2,000 people. These individuals and their families often have to cope not only with the day-to-day pain and inconvenience of their illness but also with questions about how and why they have been affected.
This is a cause very close to our heart. The King Baudouin Foundation manages 10+ funds supporting research into one specific rare condition or into rare diseases in general. Backed by the philanthropists behind these funds, we are able to provide financial assistance to further develop the levels of expertise in this area. For 2019 and 2020 combined, the budget available for this purpose will increase to almost €4.3 million. This funding benefits both researchers conducting fundamental research into the causes of diseases, and teams focusing on improved treatment and/or the (psychological) welfare of patients and their families. There are many rare diseases but scant research resources. This means that hardly any scientific research is carried out into certain rare diseases.
With the welcome assistance of experts, we make sure that our budget is spent as usefully as possible. Therefore, it is always a great relief – not only for the patients themselves of course, but also for all those around them – when researchers enthusiastically tell us of a breakthrough. Take, for example, the team at KU Leuven spearheaded by Prof. Eric Legius and researcher Lise Van Engeland, who have discovered the genetic explanation for the disease Schwannomatosis, thereby providing clarity for families who were previously looking for answers.
As well as being positive news for these families, the research findings offer insights that should be of use in establishing the genetic causes of other diseases. You can read more about this by clicking on the links below.