Bone Marrow Failure Syndromes: From Biology to Cure

Bone Marrow Failure Syndromes (BMFS) are a diverse group of rare disorders characterised by insufficient hematopoesis which vary in age of onset, symptoms and severity. They can be separated into 2 disease classes. Inherited BMFS (iBMFS) generally occur in pediatric populations and are initiated by somatic genetic mutations (e.g. Fanconi Anemia, Dyskeratosis Congenital and Shwachman-Diamond syndrome). As genomic screening is being applied to patients with BMFS, new mutations and late presentation disease are being increasingly identified. Acquired BMFS (aBMFS) generally occur in older adults without causative genetic mutations (e.g. Aplastic Anemia). 15% of patients with a BMFS will develop cancer, including secondary Acute Myeloid Leukemia and Myelodysplasia which has a poorer outcome than patients presenting with primary malignancy. While supportive care (including transfusions and immunosuppression) and bone marrow transplantation are the cornerstone of therapy in BMFS new treatments are urgently required, particularly for patients without an appropriate stem cell donor available.

The purpose of this research topic is to stimulate research and discussion into BMFS. Analysis of the basic biology of these diseases provides not just areas for therapeutic interventions but also a greater understanding of stem cell biology, hematopoiesis and immunity. Given the genetic basis of iBMFS, gene therapy and genome editing is emerging as a new treatment option for some patients while targeted immunosuppression may provide more effective treatments for aBMFS beyond the currently used general immunosuppression. Further research into the causes and progression of these diseases will enable the development of new therapies and potentially cures.

We are requesting review articles and original articles that address the following themes:

1. Description of newly emerging BMFS

2. Exploration of the biology and pathology of BMFS in primary patient samples and model systems

3. New therapeutic developments for BMFS including immunotherapies and gene therapies (both clinical and preclinical data)

4. New biological/genetic studies of stem and progenitor cell function and pathology with new primary data.





Topic Editor Rachel Koldej received research funding from CRISPR Therapeutics