The Orphan Disease Center at the University of Pennsylvania has announced the Bloom Syndrome Grant Program. Bloom syndrome is an ultra-rare, multisystem 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 result in DNA repair defects, which result in chromosome breaks and rearrangements. The abnormal DNA repair is responsible for the increased risk for cancer. Greater knowledge of its mechanisms will not only be beneficial for patients of Bloom syndrome but also could be translated to the clinic for cancer therapy.

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

Improve knowledge of tumor biology for Bloom syndrome

Novel therapeutic approaches for Bloom syndrome

Letters of interest are due Friday, April 15, 2022 by 5 p.m. Grant criteria, the entire RFA, and additional program details can be found at https://www.orphandiseasecenter.med.upenn.edu/grants/bloomsyndromegrant. This RFA is open to all academic scientists and commercial entities in the international research community.

—Orphan Disease Center