Our Research

Advancing treatments and searching for a cure

To advance treatments and find a cure for FA, we must think big, set bold goals, and fund the best research. Since FCF was established in 1989, we have awarded 260+ grants totaling more than $32 million. Donors have seen their gifts multiply in that pilot grants from FCF have enabled many FA researchers to go on to receive major grants for FA research from the National Institutes of Health and other funding sources worldwide.

Donations have helped us advance FA science more rapidly than ever thought possible. For example, no FA genes had been identified in 1989. Today, 23 genes have been discovered. Bone marrow transplant success rates for FA patients with a matched unrelated donor have risen from 0% in 1989 to over 87% today in some transplant centers that specialize in Fanconi anemia. Matched sibling donor transplants have risen from a 35% success rate to close to 100% today in those centers.

Fanconi
Anemia

Solid
Tumors

Bone Marrow
Failure

& hematopoietic
malignancies

Fanconi Anemia
Genes

& DNA repair
pathway

Fanconi
Anemia

& Body
Systems

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The research we fund fits into four general categories: FA solid tumors, bone marrow failure and hematopoietic malignancies, FA genes and the FA DNA repair pathway, and body systems.

Solid Tumors

Individuals with Fanconi anemia have an extremely high risk of developing squamous cell cancer in the head and neck and anogenital regions and some risk of cancers in other regions as well. The cancers that develop in FA individuals often occur at a much earlier age than what is observed in the general population and are difficult to treat due to the toxic effects of chemotherapy and radiation observed in this population. FCF supports grants that focus on defining the pathogenesis of FA solid tumors and that seek novel strategies for early detection, prevention, and treatment of these cancers.

Bone Marrow Failure and Hematologic Malignancies

To date, hematopoietic cell transplant (HCT) is the only curative treatment option for bone marrow failure for persons with FA. Advancements in HCT protocols and long-term care continue to improve survival rates of persons with FA following HCT. Despite these advancements, the high risk of developing squamous cell carcinoma (SCC) in individuals who have undergone an HCT is a major concern. The development of HCT-related graft-versus-host disease is correlated with increased risk; however, it is unclear whether additional factors associated with the HCT process also confer an increased risk. It is thought that the use of genotoxic chemotherapy and radiotherapy regimens may contribute to increased risk, but more studies are needed to delineate the specifics of each contributing factor. In individuals who have not yet had a transplant, the risk of progression to myelodysplastic syndrome and acute myeloid leukemia is also high. Therefore, further research is needed to develop treatments for bone marrow failure that do not rely on toxic therapies and to understand, prevent and stop the progression to hematopoietic malignancies.

FA Genes and DNA Repair Pathway

Discovery of the genes that cause Fanconi anemia (FA) and the role of FA proteins in regulating DNA repair have been active areas of research over the last 30 years. Researchers have now identified 23 genes that, when mutated, cause FA, including FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANCQ/ERCC4, FANCR/RAD51, FANCS/BRCA1, FANCT/UBE2T, FANCU/XRCC2, FANCV/REV7, FANCW/RFWD3, and FANCY/FAP100. The FA proteins participate in a coordinated set of events that lead to the repair of interstrand crosslinks (ICLs) when the FA DNA repair pathway is activated during DNA replication. Variants in the FA genes cause faulty ICLrepair.

Understanding the role of specific FA variants is a critical component for identifying the potential risks and understanding the clinical course of FA patients. FCF supports grants focused on understanding the basic biology of FA genes and the DNA repair pathway to better understand how we can exploit the pathway for prevention or therapeutic purposes.

FA and Body Systems

Fanconi anemia may affect multiple systems of the body. People with FA may experience endocrine disorders, arm and hand abnormalities, gynecological and/or dermatological issues, infertility, Fanconi anemia-associated neurological syndrome, mental health problems, and hearing and/or nutrition difficulties in addition to bone marrow failure and cancer. FCF supports grants focused on understanding the role of FA genes in whole body manifestations of the disease in order to improve quality of life and address the myriad of issues individuals with FA face.

Unleashing Progress

Creating
Lifelong Impact

We envision a future in which we can prevent and/or eliminate the primary causes of death and disability in people with FA, enabling them to live full and productive lives. To us, the best way to do this is by funding research.

The Latest

News & Events

Breaking Ground in Cancer Research: Introducing the Fanconi Cancer Foundation-AACR NextGen Grant

That's why we're thrilled to announce the launch of the Fanconi Cancer Foundation-AACR NextGen Grant for Transformative Cancer Research, a flagship funding opportunity in partnership with the American Association for Cancer Research (AACR).

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Introducing the Fanconi Cancer Foundation: A New Era in FA Research & Impact

In 1989, Lynn and David Frohnmayer founded the Fanconi Anemia Research Fund (FARF), determined and desperate to find a cure for their three daughters diagnosed with Fanconi anemia (FA). Since then, their vision has grown into a vibrant community of FA families, researchers, clinicians, donors, fundraisers, staff, and volunteers, all dedicated to improving outcomes for people with FA.

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DNA strands

2024 Research Updates

Research is the answer to one day making FA a treatable, manageable disease. Here, you'll discover the most recent strides in FA research and activities funded by FCF. Every quarter, we'll bring you updates on newly funded grants, ongoing projects, and significant milestones.

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