Focus: Fanconi anemia
Consortium: Fanconi Research Initiative for Education, Networking, and Data Sharing (FRIENDS)
Headquarters: Fanconi Cancer Foundation
Website: fanconi.org/data-project
Consortium Manager: Laura Hefner, laura@fanconi.org
Fanconi Anemia (FA) is a rare genetic, cancer predisposition disease caused by mutations in any of the known 22 genes, including BRCA1 and BRCA2, that play a role in the FA DNA repair pathway. People living with FA have a very high risk of developing bone marrow failure and solid tumors, and often have many other systemic issues. Because FA is a rare disease with siloed data, it is especially important to combine and share data for research and discovery to ultimately advance rare cancer disease research.
The top research priorities for the FRIENDS are bone marrow failure and transplant, cancer, and genetics. Other research priorities for the FRIENDS include breakage analysis and diagnosis, community engagement, demographics, developmental abnormalities, dietary history, environmental exposures, family history, Fanconi Associated Neurological Syndrome (FANS), fertility, and psychosocial research.