Bloom Syndrome Think Tank

The Orphan Disease Center hosted a Bloom Syndrome Think Tank on November 9, 2021. During this research-focused meeting, we met with clinicians and scientists from the US, Australia, Denmark, and the UK, to discuss the state of the research in Bloom Syndrome and to learn more about the most current advances in this disease. We identified several gaps in the research and are now preparing a request for applications from scientists worldwide to begin the research grant program.

Bloom syndrome is a rare disease that affects many body systems and increases the risk of developing cancer at an early age. This disorder is part of a group of rare genetic diseases with defects in DNA damage response and repair. 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. The rarity of this disorder has challenged progress in the understanding of the disease and the development of treatments and cures for patients.

The Orphan Disease Center's JumpStart program serves to establish and progress research agendas in emerging and neglected rare diseases, such as Bloom syndrome. By bringing together experts and key opinion leaders, we aimed to increase knowledge in Bloom Syndrome and encourage collaboration amongst these researchers to ultimately advance science in this otherwise overlooked disease. We will develop a grant program in the near future, that will assure funding for investigators of Bloom syndrome and other associated diseases.