Diamond Blackfan anaemia is a condition that raises many questions in need of scientific answers. Together with Josef Penninger and his IMBA team as well as the Max Perutz Labs of the Medical University of Vienna, we want to get to the bottom of these unanswered questions. To make this remarkable research project possible, we need your support. Finding answers would not only help our children but many others who suffer from this rare disease.
The parents share their story
“Josefine (8) and Luis (9) have both suffered from Diamond Blackfan anaemia (DBA) since their birth. Because of their condition, they depend on transfusions and need to take heavy medication to keep the iron overload in check. Josefine and Luis are unable to produce red blood cells, which is why they have to check into the ‘blood filling station’ at Vienna’s St. Anna Children’s Hospital for transfusions.
So far, it has been established that a genetic mutation is at the root of this disease that is associated with certain phenotypic characteristics. What is still unclear is what makes the disease break out in a person. Owing to the extremely low prevalence of this disease (between five and seven people in a million suffer from it), the focus is still on setting up internationally uniform diagnostic standards and registration procedures to collect data on the condition’s progression.
When it comes to the factors triggering DBA to break out, research has only just begun. It is not just the love for our children that makes us feel responsible to do anything we can to find out what causes DBA. We are also convinced that researching the origins of the disease will bring about significant insights into other types of haematopoietic bone marrow defects.
We know from the literature that research into a disease is initiated, in a great many cases, by the people affected and owed to their unwavering determination to not just accept their fate. We are inspired by all of these people and we firmly believe that by working together with the IMBA team, we will be able to do great things for science and the research of rare diseases.
And of course it is our greatest wish to find a cure that puts a stop to the painful treatments our children Josefine and Luis have to undergo.”
Josefine’s and Luis’ parents
“I have been tracking the progress of this project since its inception and I would like to thank Boris and Marianne Marte for choosing IMBA for this unique research project and for putting their trust in our work.”
“We live in an age of breathtaking medical breakthroughs. Rare diseases whose origins have been obscure until now can be deciphered with the help of modern technologies. The joint initiative with IMBA on Diamond Blackfan anaemia is a lighthouse example.”
This research project has been made possible by
655.700 Euro have been donated
560 people have
25 researchers are
on the team
About the project
Diamond Blackfan anaemia (DBA) is a rare genetic disease. In Vienna, ten children suffer from it. The siblings Josefine and Luis are two of them. Their cases are especially interesting for science because one of their parents has the same genetic mutation but does not suffer from the disease. In a joint research project, researchers at IMBA and the Max Perutz Labs of the Medical University of Vienna seek to analyse which genes cause DBA and which genes make a person resilient to the disease. These so-called “supergenes” can prevent a person from becoming sick despite a genetic disposition. It is possible that DBA is caused by the same mechanisms that also bring about an increased risk of cancer.