About this role
Would you like to contribute to improving quality of life and resilience for people living with leukodystrophies and their families? You will develop patient-centred tools and investigate factors that influence coping, treatment experiences and quality of life across the lifespan. POLARIS doctoral network POLARIS is a European Marie Skłodowska-Curie Doctoral Network focused on accelerating therapy development for leukodystrophies: rare genetic disorders affecting the brain's white matter. The network aims to strengthen the full translational pathway from disease mechanisms and model development to preclinical therapy testing, clinical readiness and patient-informed treatment priorities. To achieve this, POLARIS brings together expertise in leukodystrophy biology, advanced disease models, therapeutic innovation, biomarker development, clinical translation, patient engagement, and the ethical, regulatory and health-economic aspects of therapy development. The network will train a cohort of doctoral candidates in an international and interdisciplinary environment, combining academic research, industry-based preclinical development, secondments, network-wide training and transferable-skills development. PhD project For this position, the recruiting organisation is the University Hospital Tübingen (Eberhard Karls University of Tübingen), Germany. You will be embedded in the POLARIS consortium and work with experts in leukodystrophy, paediatric neurology, developmental psychopathology, resilience research and digital quality-of-life assessment. Leukodystrophies can have a profound and long-lasting impact on patients and their families. Yet current quality-of-life measures do not adequately capture the experiences of people with these rare diseases, particularly those who are severely affected or unable to communicate verbally. This project aims to address this gap and improve our understanding of what matters to patients and families throughout the course of the disease The project has three connected research areas: Quality of life: evaluating existing quality-of-life measures and developing and validating a tool for patients and families across the lifespan, using qualitative research, consensus methods and quantitative validation in an international cohort. Risk and resilience: identifying factors associated with parental distress, coping and resilience, drawing on developmental and psychological research. Long-term outcomes: investigating how these factors relate to quality of life, treatment experiences and family coping over time, with the aim of identifying ways to strengthen resilience. A specific focus will be on families of children who are diagnosed before symptoms appear, for example through newborn screening, family screening or genetic testing. These families may face uncertainty about when symptoms will develop and difficult decisions about treatment. Understanding their experiences and support needs is important for developing patient-centred screening, monitoring and treatment pathways. Depending on your background and interests, the project can place greater emphasis on quality-of-life measurement or on risk and resilience research. You will develop your focus together with the research team. Planned secondments at the University of Oulu and the Anna Freud Centre will provide experience in digital quality-of-life assessment and psychosocial research. You will also engage with the European Leukodystrophy Association and other patient organisations to better understand the priorities of patients and families. The position is based in Tübingen, Germany, with academic enrolment through the Eberhard Karls University of Tübingen. You will pursue a PhD in a relevant discipline. You will independently contribute to the design and implementation of a multi-site, international research project. Your work will include qualitative and quantitative research, development and validation of quality-of-life measures, analysis