The 2nd Bloom Syndrome Grant Program will provide one and two‐year grants to support research related to Bloom Syndrome. Up to $500,000 may be awarded across all funded grants. 

 Background

 Bloom syndrome (BSyn) is an ultra-rare multi system disorder that substantially increases the risk of developing cancer at an early age. While only about ~300 cases have been reported to date, BSyn is part of a group of rare DNA damage response and repair disorders. The gene BLM, located at 15q26.1, encodes for the BLM protein, a RecQ DNA Helicase family protein. A recurrent mutation known as BLMAsh, which is common among Ashkenazi Jews, is responsible for approximately 30% of BSyn cases, while the remaining 70% of cases are caused by multiple other mutations with full or partial loss of function and a range of resulting phenotypes. 

 BLM pathogenic variants that cause Bloom syndrome result in DNA repair defects which in turn result in chromosome breakages and rearrangements. The abnormal DNA repair is responsible for the increased risk for cancer. Greater knowledge of its mechanisms will be not only beneficial for patients with Bloom syndrome but may also translate into clinical innovations for cancer therapy in general.

 We are seeking grant applications to increase the rate of discovery of the mechanisms of BSyn and, importantly, lead to treatments and/or cures for BSyn. While the RFA is intentionally broad in scope, priority will be given to grants that cover the following areas:

 1) Improve knowledge of Bloom syndrome tumor biology, including, but not limited to tumor models, tumor sequencing to determine a tumor signature for BSyn, molecular surveillance for tumors, as well as a centralized registry of validated tissue (coordination of sampling, storing and distribution of samples). One 2-year grant for up to $150,000 (total cost).

 2) Literature review, critical assessment & study proposal, regarding: 

 i. The impact of sunlight and radiation in BSyn.

 ii. Safety & efficacy of cancer treatments in BSyn including modalities, regimes and dosages.

 iii. Utility of existing data sets as a natural history study and/or control arm for future clinical trials.

 iv. Gene therapy for BSyn.

 v. Why and how BSyn can be a model for cancer development in general.

These projects will involve a critical review of currently available information and outline proposed studies that could be performed to better understand the topic(s) in question. Up to four one-year grants for up to $50,000 each (total cost).

 3) Global cancer surveillance & novel cancer research in Bloom Syndrome, including, but not limited to, establishment of BSyn tumor organoids, collection and analyses of patient-derived blood samples, microbiome studies, and hematopoietic stem cell health and dysfunction studies. One 2-year grant for up to $150,000 (total cost).

Eligibility

Non-profits. All individuals holding a faculty-level appointment at an academic institution or a senior position at a non-profit institution or foundation are eligible to respond to this RFA. 

Commercial entities. We will consider applications from commercial entities if a principal investigator of appropriate experience is identified. 

 Intellectual property created as a result of this funding will be assigned to the home institution of the inventors who presumably would be employees of the company. We expect that grants provided to commercial entities be matched dollar for dollar. Note that the budget should cover the entire scope of work and should include the Bloom Syndrome Association award and the company’s match. We will need assurance in the grant contract that the company will diligently develop the project. 

See full Request for Applications (RFA) here: https://static1.squarespace.com/static/5fbd2cd686a75170665fde3e/t/670e6fee2aea3107ef7e3d8a/1728999406741/RFA+2nd+Bloom+Syndrome+Grant+Program+2024+FINAL.pdf