Bloom Syndrome — Orphan Disease Center

Bloom Syndrome Grant Program

The Orphan Disease Center (ODC) at the University of Pennsylvania is pleased to announce the Bloom Syndrome Grant Program. Bloom syndrome 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, Bloom syndrome is part of a group of rare DNA damage response and repair disorders. BLM pathogenic variants that cause Bloom syndrome results in DNA repair defects which results in a chromosome breaks and rearrangements. The abnormal DNA repair is responsible for the increased risk for cancer. Greater knowledge of its mechanisms will be beneficial not only for patients of Bloom syndrome but also could be translated to the clinic for cancer therapy.

We are seeking grant applications that progress the discovery or development of treatments and/or cures for Bloom Syndrome. While the RFA is broad in scope, priority will be given to grants that cover the following areas:

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

Two-year grant for $100,000 (total cost): Novel therapeutic approaches for Bloom Syndrome, including, but not limited to, techniques in genome editing, RNA-based mechanisms, biologics, novel cell-based therapeutics, and development of novel therapeutic compounds, including through small molecule repurposing or screening against validated phenotypes in human cellular systems.