Grant: Emerging Team Grant: Rare Diseases - Health Services/GELS

Our team proposes a program of research to position Canada as a world leader in evidence-informed health care for children with rare diseases, beginning with inborn errors of metabolism (IEM). We have a strong team with expertise in many areas of academic research and in providing clinical care for children with IEM. We are supported by a multidisciplinary advisory board that includes patient and family representatives. Our proposed research program builds on existing partnerships and on a new research framework. This framework highlights the importance of measuring outcomes from a range of perspectives and emphasizes key challenges in developing effective health care for children with rare diseases. To support our research, we will develop a unique information system for Canadian children with IEM. With families' permission, this information system will enable us to study children's health outcomes and their use of health services, including associations with the treatments they receive. Importantly, we will also incorporate patients' and parents' self-reported well-being and their experiences with health care. We will use our findings to make recommendations for improving care for children with IEM and other rare diseases. We will also train new researchers and providers and develop a sustainable research network in this field.