Novel syndrome highlights the importance of rare disease research stat : EurekAlert

This shines a clear spotlight on how rare disease research can provide important breakthroughs for more common diseases. Making the connectionDirecting resources to rare disease research might not always be the obvious choice when the results will apparently benefit only a small group of people. The journal's mission is to provide a forum for clinicians and scientists to discuss basic science and clinical research related to human disease, disease detection and novel therapies. About Disease Models & MechanismsDisease Models & Mechanisms (DMM) is a research journal publishing both primary scientific research, as well as review articles, editorials, and research highlights. It might also only take one published study on a rare disease to start making connections to other patients for whom a diagnosis is still elusive.




Pixabay, Darko StojanovicThis year's global theme for Rare Disease Day is research, something with which most families affected by a rare disease will be familiar. Small-scale projects, like these, can provide information of great benefit to developers of rare disease drugs: this idea is explored in detail in our latest white paper about tackling rare disease with big and small data. With research being at the forefront of everyone's mind this Rare Disease Day, it's our hope that the findings of patient-led research projects, like ours, are used increasingly by the pharmaceutical industry to develop treatments with those affected by rare diseases in mind. This year's edition of Rare Disease Day is dedicated to research and its importance. The willingness of people in the rare disease community to share their experiences was reflected in a larger RD-Connect study that included similar themes.


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