Josefine and Luis: two very special children

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.

We all benefit from research

The scientific insights gained through the research of rare diseases benefit us all. Basic research aims to analyse the mechanisms of health and disease. This knowledge is then applied to individual patients to find new treatment possibilities, for instance in the field of personalised medicine. Treatment possibilities that help children such as Josefine and Luis.

What is DBA?

Diamond Blackfan anaemia (DBA) is a congenital form of severe chronic anaemia. It is caused by an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells. As of now, very little is known about this disease. DBA is a very rare condition: only between five and seven people per one million live births suffer from it. In Austria, an average of between five and seven children are born with DBA within a period of ten years. In most cases, the disease is caused by a sporadic mutation. Some patients, however, pass on the disease through their genes, which means that other family members may be affected.
More on DBA: About DBA 1, About DBA 2 (both in German)


Children who suffer from DBA often need a blood transfusion very soon. Some patients need lifelong transfusions every three to six weeks in order to keep their haemoglobin level (Hb) above 8-9g/dl.
For the affected children, regular transfusions mean that they have to undergo venous access procedures on a regular basis – a painful and harrowing experience. Due to the frequent blood transfusions, their bodies are overloaded with iron. The excess iron is mostly stored in the liver, the pancreas and the heart. A long-term iron overload of these organs can lead to severe complications such as liver failure, diabetes or heart failure. Steroids are an important treatment option for many patients suffering from DBA, but they also stunt growth. So far, stem cell transplantation is the only treatment that can heal DBA.
Unfortunately, bone marrow transplantation comes with significant risks. If the donor’s tissue is not an optimal match for the patient, there is, among other things, a risk of rejection.
Children who are affected by this disease are often pale, tired and have little resilience. About half of the patients are short in stature and about 40% have minor or major physical abnormalities, especially in the head and neck area. The bone marrow of DBA patients contains very few or no red blood cell progenitors that progress to the next stage of maturation toward mature red blood cells.


“For the affected children, regular transfusions mean that they have to undergo venous access procedures on a regular basis – a painful and harrowing experience.”

About IMBA

IMBA, the Institute of Molecular Biotechnology, is one of the leading centres of biomedical basic research in Europe and the largest institute of the Austrian Academy of Sciences. IMBA researchers have so far received 15 “Wittgenstein awards” (the most prestigious Austrian science award) as well as 17 ERC Grants, which are awarded by the European Research Council.
IMBA research focuses on cancer, cardiac regeneration, stem cells, diseases of the brain, osteoporosis, egg cells & female fertility, infectious diseases and rare diseases.

About the Max Perutz Labs

The Max Perutz Labs Vienna, which are located at the Vienna BioCenter, are a joint research and education centre of the University of Vienna and the Medical University of Vienna. At both universities, about 450 employees from 40 countries work in the field of molecular biology. They are active in various fields of life sciences, investigating both the structure of essential cell molecules and their role in developmental biology and medical conditions. Research group heads and employees of the Max Perutz Labs teach lectures and seminars for undergraduate and graduate students of the University of Vienna and the Medical University of Vienna as well as doctoral students of the University of Vienna.

Focus on rare diseases

Diseases carry the epithet “rare” if fewer than one in 2,000 people are affected. According to estimates, there are 6,000 different rare diseases, among them cystic fibrosis, amyotrophic lateral sclerosis (ALS), brittle bone disease, epidermolysis bullosa (“butterfly children”) and Huntington’s disease. Put together, they are not that rare after all. In Austria, there are about 500,000 patients. All over Europe, about 36 million people are affected. 80% of rare diseases have genetic causes. A small genetic abnormality can lead to developmental disruptions of cells, organs or the entire organism.

Research for the medicine of tomorrow

The working groups led by Prof. Josef Penninger (IMBA) and Dr. Javier Martinez (Medical University of Vienna/Max Perutz Labs) are trying to shed light on the molecular mechanisms underlying DBA. In order to do that, they analyse cells from blood samples of the affected families. In a second stage, connective tissue and blood cells will be used to obtain stem cells that are not yet differentiated in order to differentiate them into cell lines of red blood cells. From this, researchers expect significant insights into the step of the maturation process of red blood cells that is inhibited in DBA patients. The potential development of a treatment hinges on understanding these molecular basics.


International contacts and websites

Spain: http://anemiablackfandiamond.org.es/
Italy: http://www.diamondblackfanitalia.org/
Germany: http://www.diamond-blackfan.de/
United States: http://dbafoundation.org
European Diamond Blackfan Consortium: https://www.eurodba.eu
Daniella Maria Arturi Foundation: http://www.diamondblackfananemia.org
France: http://afmbd.org

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