PM.20.033 – Personalized medicine: the individual in focus

Route: Personalised medicine: the individual at the centre

Cluster question: 076 What are the consequences of chronic disorders, stress, and disabilities and what is the best way to deal with them?

Sickle cell disease and thalassemia are among the most common hereditary diseases in the world. Both diseases result in chronic anemia and patients suffer from severe morbidity at early age, resulting in increased mortality at a young age. Despite the fact that these diseases are so prevalent, they are relatively unknown by the general public in Western societies. This is due to the fact that these diseases are most prevalent other parts of the world, like Africa, India, the Middle and Far East, but they also occur in Southern Europe including Italy, Greece and Turkey. Due to migration patients suffering from these diseases have spread over the world including the Netherlands. The knowledge about these diseases is low among healthcare personal in the Netherlands. This knowledge gap is not only resulting inadequate care but also reduced funding of research and development of therapeutic agents, as was demonstrated in a recent publication that the national research budgets for sickle cell disease was 10 times lower than for cystic fibrosis (an hereditary disease exclusively diagnosed in people originating from Northern Europe). Both this and the fact that immigrants have difficulties in finding their way in the complex healthcare system of the Netherlands, results in inadequate health care and a high risk of morbidity and mortality that should be prevented. In this proposal, we aim to fill the gaps in access to care and treatment options for these diseases. Our program is aimed at multiple targets, ranging from analyses of barriers of access to healthcare to the prevention of organ damage including cerebral damage, which is responsible for neuro-cognitive damage and the development of new therapies, ranging from preventive strategies to curative therapies such as allogenic stem cell transplantation and gene therapy.


acces to care, chronic disease, hereditary anemia, immigrants, organ damage, Prevention


Organisation Amsterdam UMC (Amsterdam UMC, AMC)
Name Prof. Dr. Bart J. Biemond