The eCG Family Clinic

2020

Inherited cardiovascular diseases often run in families, with a 50% chance of passing on the disease-causing genetic defect to children. When a genetic mutation is found in the first family member diagnosed (called the proband), other relatives can get tested to see if they have the same mutation and – when they are carrier - be monitored and timely treated if needed. Unfortunately, less than half of the at-risk relatives don't seek genetic counseling in the first years of the proband's diagnosis. The eCG (electronic Cardiovascular Genetics) Family Clinic was created to stimulate families to test themselves after the diagnosis of the proband by making this process easier and more accessible.

The Research 
In the eCG Family Clinic consortium, a team of software experts, doctors, and specialists in ethics, law, economics, communication, and psychology work together to develop and implement a virtual clinic that offers personalized information and support through a virtual assistant, allowing relatives to make informed decisions about testing and treatment.

Because this consortium believes that involving all possible affected stakeholders is crucial for its success, it frequently consults with probands, family members, healthcare professionals, and advocates to understand their needs. The prototype is designed while keeping the important economic, ethical, and legal aspects of this new approach in mind. The prototype of the eCG Family Clinic is tested in real healthcare settings to see how well it works compared to current practices

Origin
This project is funded within the Innovative Medical Devices Initiative (IMDI) program 'Heart for Sustainable Care'. The focus of this program is the development of medical technology for the earlier detection, monitoring, and better treatment of cardiovascular diseases to ensure accessible healthcare and sufficient staffing. The program has been developed en funded by the Dutch Heart Foundation, ZonMw and NWO, who collaborate within the Dutch CardioVascular Alliance.

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Funded

Contact person:

Dr. M.A. Siemelink

Principal investigators

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National Network Healthy Living in a Healthy Environment

2022
Promoting a healthy lifestyle and maintaining it for a long time is crucial for the prevention of cardiovascular diseases. Lifestyle change areonly sustainable and impactful if it takes into account the context in which it occurs. The research Therefore, this netwerk will disseminate this insight widely to policymakers, researchers and everyone who contributes to promoting healthy behaviors. In this way, we can collectively achieve greater health gains when implementing potentially successful interventions. The ultimate goal is to achieve sustainable and impactful lifestyle change in the population. In the projects LIKE, BENEFIT and SUPREME NUDGE, unique expertise has been gained in the field of (1) embedding lifestyle interventions in complex systems, and (2) changing systems underlying lifestyle behavior. Within this national network, we want to disseminate and embed this expertise among researchers, practice professionals and policy makers. We will combine this expertise in the form of two toolboxes; a toolbox for practice professionals and policy makers and a toolbox for researchers. To this end, existing tools will be adapted, where necessary, to make them more widely usable. We aim to embed the toolboxes in (existing) structures and will make the toolboxes findable and disseminated through this netwerk. This network will serve as a structure for connections between stakeholders and contribute to the realization of a sustainable knowledge infrastructure. With this project we identify and create important conditions for successful further development and upscaling of innovative and sustainable ways to sustain healthy living for longer. With this we go further than many existing networks and knowledge infrastructures that focus only on 'effective interventions' but not on the structural embedding in systems or addressing the systems themselves. The origin From 2017, the Dutch Heart Foundation, together with ZonMw, invested in research by three healthy living consortia (LIKE, BENEFIT and SUPREME NUDGE). The common goal was to find new ways to achieve sustainable and impactful lifestyle change in the population. Heart Foundation and ZonMw asked the three healthy living consortia Supreme Nudge, LIKE and Benefit to join forces within this theme by using the knowledge they have gained over the past few years. Although the three consortia each had a different approach, the research leaders agreed on what is needed for lifestyle change to be truly successful: a shift in thinking about lifestyle change. Subsequently, the Dutch Heart Foundation and ZonMw provided follow-up funding to join forces and acquired knowledge in a new knowledge infrastructure.
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Phaedra-impact

2018
Pulmonary Hypertension (PH), particularly Pulmonary Arterial Hypertension (PAH), presents a fatal complication in chronic diseases, affecting 1 in 50,000 individuals, predominantly at a young age and more often in females. The underlying genetic link involves mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene, disrupting BMP signaling. The PHAEDRA-IMPACT consortium aims to understand PH and PAH. The Research The research focuses on understanding PAH through the transforming growth factor-β (TGFβ) signaling pathway, particularly influenced by mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene, prevalent in heritable and some non-hereditary PAH cases. The PHAEDRA initiative identified compounds that modulate the TGFβ/BMP balance, showing efficacy in restoring endothelial function and reversing pulmonary vascular remodeling in preclinical models, though not curing PAH, making early detection crucial. PHAEDRA has identified biomarkers for timely diagnosis and personalized treatment. PHAEDRA-IMPACT will enhance early detection using non-invasive risk assessments, imaging, and biomarker profiling to detect pre-capillary PH. Precision medicine will guide tailored therapies based on advanced imaging and biomarker analyses, addressing disease progression variability among predisposed individuals. Additionally, patient-derived induced pluripotent stem (iPS) cells will be used in 3D culture models of lung and heart tissues to uncover PAH mechanisms and identify therapeutic targets. This comprehensive approach aims to advance our understanding of PAH pathogenesis, accelerate drug development, and enable personalized treatment and preventive strategies for individuals at risk or affected by PH. Origin This consortium was funded through the Impulse Grant program by the Dutch Heart Foundation.
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