10 March 2022

On 28 February 2022, our Disease Models & Mechanisms (DMM) journal team attended the first Rare Diseases Conference at the Francis Crick Institute, London. This hybrid meeting was organised by Professor Veronica Kinsler, Professor John Achermann, Professor Uta Griesenbach and Professor David Rees. Around 100 attendees gathered in person at the Crick, with more joining the proceedings online.

The meeting took place on Rare Disease Day, which aims to raise awareness of over 7,000 rare diseases and the impact they have on patients’ lives around the world. The scientific programme featured the latest research into conditions including cholestasis, porphyria, and childhood neurological disorders. Speakers were assembled from the Crick, its partner institutions (University College London, King’s College London and Imperial College London), and further afield. They included DMM’s Editor-in-Chief, Liz Patton, who said, “The Rare Disease Day meeting was a great opportunity for researchers with a wide range of disease expertise to discuss unmet needs in the field and how these can be addressed through basic and translational research.” DMM’s Editor, Rickie Patani from University College London also presented, and commented that, “It was great to be able to interact with attendees and speakers that are united by the purpose of trying to understand and treat these devastating diseases.”

DMM was one of the sponsors of this meeting, and as an Open Access biomedical research journal, it is a highly relevant venue for preclinical research in rare diseases. The journal team were delighted to meet authors in person once again following a long hiatus. Julija Hmeljak, DMM’S Reviews Editor said, “The rare disease community is committed and passionate, and the opportunity to interact with them in person has been wonderful.”  DMM advances novel insight into the mechanism, diagnosis, and treatment of rare diseases, and we are proud to support this research community.