by sabine | Nov 15, 2021 | Publication
Background Rare disease registries are essential tools for improving knowledge of rare conditions, supporting clinical research, facilitating collaboration between healthcare professionals and enabling better patient care. However, the rapid growth of registries has...by sabine | Nov 3, 2021 | Publication
Background Understanding the natural history of rare bone and mineral conditions is essential to improve clinical practice and support the development of new diagnostics and therapies. Patient participation and long-term engagement are key challenges for rare disease...by sabine | May 25, 2021 | Publication
Background Differences or disorders of sex development (DSD) comprise a heterogeneous group of rare conditions affecting sex development. Due to their complexity and rarity, timely diagnosis and coordinated multidisciplinary care are essential to ensure appropriate...by sabine | Jan 29, 2021 | Publication
Background Rare endocrine conditions are a heterogeneous group of disorders that often require specialised multidisciplinary care and long-term follow-up. Due to their rarity, collecting sufficient clinical data to improve understanding of disease characteristics,...