More than 180.000 children and adults in the Netherlands are affected by an inborn bleeding disorder. They experience frequent bleeding episodes which cause extreme discomfort, invalidity due to joint and muscle bleeds, and sometimes death. Personalisation of treatment is urgently needed. It will safeguard quality of care while restraining rising costs in these debilitating and expensive diseases. Current treatment strategies are suboptimal and lead to either under treatment with risk of continued bleeding or overtreatment with excessive costs. Novel therapeutic approaches are upcoming and expected to be even more expensive. However, effectiveness, (long term) side effects and therefore, positioning and optimal use of these new treatments is not clear. Better insight into the pathophysiology of these diseases is required in order to develop more precise diagnostic techniques. Moreover, safe therapeutic approaches with minimal complications and their cost-effective patient orchestrated implementation are warranted. In this study proposal, we present a step-wise approach by an interdisciplinary team of experts in collaboration with stakeholders, to achieve 1) precision diagnosis; 2) to develop and implement safe and cost-effective treatment strategies; while 3) integrating yields of translational research. Highlights of the study are the development and systematic measurement of both patient-relevant outcome measures as well as costs of treatment, according to value-based health care methodology. In addition, e-health modules will aid implementation of treatment innovations and measurement of outcomes. Moreover, advanced laboratory techniques will be applied to develop novel diagnostic tests and to perform proteomic profiling to explain the interindividual variation of clinical manifestations in these bleeding disorders. Ultimately, the SYMPHONY consortium aims to identify best treatment choice for each individual with a bleeding disorder. Jointly, composing life-changing innovations with significant clinical and societal impact.

For a number of rare genetic diseases, lifelong cure can be obtained by correcting the genetic defect in the patients’ own blood stem cells. Many curative gene therapies do not reach patients for reasons other than a lack of treatment quality. We propose to develop platform infrastructure that can be used for many diseases rather than every time focusing on one approach unique for each disease. Simultaneously we address challenges regarding the regulation, reimbursement and public acceptance of these therapies in a knowledge hub for dialogue with society.

This research project seeks to understand colonial governance and health policies in a multicultural context by focusing on the case of leprosy. Recent research into the production, transfer and implementation of (scientific) knowledge has shown that the building of public health structures in the multicultural context of colonies was not a matter of simply exporting western biomedical knowledge, implanting it on a passive indigenous population. Disease concepts varied according to time, place and cultural setting. By looking at the case of leprosy in the Dutch colonial empire, the proposed research intends to offer a detailed examination of negotiated relationships between indigenous and imperial medicine. It seeks to understand the complex reciprocity between knowledge, attitudes and practices towards leprosy over time and across the globe by comparing the Dutch East Indies (now Indonesia) and Suriname. With a keen eye for the agency of leprosy sufferers, it will look at the way in which colonial health policies came into being. Leprosy has always been a disease with strong - and controversial - connotations. For that reason, it may serve as a projection screen on which notions of illness, disease, power and control are projected. As a whole, the project will enhance our understanding of how forms of citizenship and governance are shaping disease control policies. Because the research is looking at the links between disease and stigma, and at processes of inclusion and exclusion, it is relevant to contemporary understandings of health policy and bio-security. As such, the proposed research can contribute to the understanding of health and disease in a globalizing world.

The recent development of customizable and highly efficient gene editing systems, such as CRISPR/Cas9, are revolutionizing research, medicine and agriculture/biotechnology. Such novel technologies sometimes raise concerns regarding safe application, in relation to human health and environment. Given the immense potential benefit of gene editing technologies, it is highly likely that they will be applied in the future. As such, there is a clear need to inventory and assess potential risks and benefits, as well as risk mitigation strategies, though technical or regulatory means. Our proposed research aims to perform this for two gene editing applications.