Lucy C Fox, Zoe K McQuilten, Frank Firkin, Vanessa Fox, Xavier Badoux, Ashish Bajel, Pasquale Barbaro, Merrole F Cole-Sinclair, Cecily Forsyth, John Gibson, Devendra K Hiwase, Anna Johnston, Anthony Mills, Fernando Roncolato, Robyn Sutherland, Jeff Szer, Stephen B Ting, Shahla Vilcassim, Lauren Young, Neil A Waters, Erica M Wood
The bone marrow failure syndromes (BMFS) are a diverse group of acquired and inherited diseases which may manifest in cytopenias, haematological malignancy and/or syndromic multisystem disease. Patients with BMFS frequently experience poor outcomes, and improved treatment strategies are needed. Collation of clinical characteristics and patient outcomes in a national disease-specific registry represents a powerful tool to identify areas of need and support clinical and research collaboration. Novel treatment strategies such as gene therapy, particularly in rare diseases, will depend on the ability to identify eligible patients alongside the molecular genetic features of their disease that may be amenable to novel therapy...
December 2023: Best Practice & Research. Clinical Haematology